Diko : en:muscle biopsy shows myopathic changes

en:muscle biopsy shows myopathic changes

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C1836137

Associations d'idées

[F]

›

1000

en:sparing of the brachioradialis muscle (gives appearance of 'oblique amyotrophy')

•

en:vacuolar membranes immunostain with sarcolemmal proteins

•

en:soft tissue vascular malformations

•

en:facial muscle atrophy

•

en:fatty infiltration

•

en:pelvic girdle weakness and atrophy

•

en:progressive muscle weakness

•

en:inability to stand on tiptoes

•

en:inclusions are tdp43-immunoreactive

•

en:lymphedema of the hands (in some patients)

•

en:muscle rigidity

•

en:muscle weakness (hcs)

•

en:proximal myopathy

•

en:small atrophic muscle fibers

•

en:nonspecific myopathic changes seen on biopsy

•

en:abnormal mitochondria

•

en:decreased activity of mitochondrial complex i

•

en:disruption of the m-line

•

en:increased glycogen

•

en:muscle biopsy shows inflammation with t cells

•

en:muscle biopsy shows subsarcolemmal nemaline bodies (rods) on gomori trichrome staining

•

en:muscle paralysis, episodic

•

en:muscular dystrophy (in some patients)

•

en:abnormal size and shape of synaptic endplates

•

en:increased t-2 signal in muscles of lower extremities on mri (in some patients)

•

en:loss of ambulation (in some patients)

•

en:loss of subcutaneous fat, particularly affecting the limbs

•

en:lower limb muscle atrophy (in 2 of 3 families)

•

en:muscle atrophy, proximal, upper and lower limbs

•

en:muscle atrophy in the limbs

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:transient eosinophilic myositis (seen on muscle biopsy) in the first decade

•

en:cores or minicores

•

en:attacks may present during or after sleep

•

en:scapuloperoneal muscular atrophy due to denervation

•

en:variation of fiber size and shape

•

en:tubular aggregates seen on biopsy

•

en:skeletal muscle biopsy showed mitochondrial complex i deficiency (1 family)

•

en:secondary loss of achr from junctional folds seen on muscle biopsy

•

en:difficulty rising from chair

•

en:nemaline bodies

•

en:muscle weakness and atrophy, progressive

•

en:evidence of reinnervation seen on emg (1 family)

•

en:electromyogram abnormal

•

en:decreased respiratory complex i+iii and ii+iii activity

•

en:atrophic muscle fiber on biopsy

•

en:muscle biopsy shows ragged-red fibers with decreased cox activity

•

en:decreased caveolae in muscle tissue

•

en:muscle atrophy (1 patient)

•

en:filamentous inclusions in muscle fibers

•

en:subsarcolemmal hyaline bodies in 25-30% type i fibers only

•

en:shoulder muscle weakness

•

en:myofibromatosis

•

en:tendon tears

•

en:small type ii fibers

•

en:mtdna depletion seen on muscle biopsy

•

en:lymphedema of lower limbs (in some patients)

•

en:isolated necrotic fibers

•

en:hypotonia, generalized, severe

•

en:hip girdle muscle atrophy

•

en:mildly reduced respiratory enzyme activities except for complex ii

•

en:flaccid weakness or paralysis, episodic attacks

•

en:emg in myotonia permanens shows continuous myotonic activity

•

en:myopathy (rare)

•

en:muscle hypertrophy

•

en:lipodystrophy, generalized, panniculitis-induced (in some)

•

en:decreased activity and protein levels of respiratory chain complexes i, ii, iii, and iv

•

en:distal lower limb anterior compartment weakness

•

en:degrading mitochondria

•

en:decreased complex i activity (rare)

•

en:areflexia of lower limbs

•

en:acquired partial lipodystrophy

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria (on electron microscopy)

•

en:shortening of various muscle-tendon groups in feet

•

en:fiber type variation seen on biopsy

•

en:weakness of the muscles in the anterior compartment of the lower leg (particularly the tibialis anterior muscle)

•

en:muscle biopsy shows neurogenic changes

•

en:decreased activity of complexes ii+iii

•

en:primarily affects lower limbs

•

en:no dystrophic changes

•

en:muscle spasticity

•

en:muscle weakness, primarily proximal

•

en:muscle biopsy shows endplate myopathy (see details under neurologic heading)

•

en:intermyofibrillar and subsarcolemmal accumulation of electron-dense material (in some patients)

•

en:imaging shows muscle atrophy and fatty replacement

•

en:exercise-induced muscle stiffness

•

en:emg shows reduction of voluntary recruitment

•

en:decreased miniature endplate potential (mepp) and current (mepc)

•

en:necrotic and regenerating muscle fibers

•

en:decreased coenzyme q10 levels in muscle

•

en:decreased numbers of type 2b fibers

•

en:frequent falls

•

en:mild muscle weakness

•

en:mri of the calves shows fatty atrophy with preservation of the medial gastrocnemius in the posteromedial compartment

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

en:myopathic episodes triggered by exercise, fasting, infection, cold temperatures

•

en:attacks precipitated by cold temperature

•

en:tubular aggregates mainly in type 1 fibers

•

en:attacks relieved by potassium administration

•

en:muscle cramps may affect jaw muscles

•

en:muscle weakness, proximal, slowly progressive

•

en:muscle weakness, symmetric, proximal, lower limbs

•

en:proximal and distal muscle atrophy in lower limbs

•

en:skeletal muscle weakness

•

en:atrophy of the lower leg muscles

•

en:gowers sign present

•

en:lower limb muscle atrophy

•

en:increased variation in fiber size (in some patients)

•

en:abnormalities in myofibril organization

•

en:emg shows polyphasic continuous motor unit discharges

•

en:distal amyotrophy (hands and feet)

•

en:decreased postsynaptic areas of clefts and folds seen on muscle biopsy

•

en:attacks usually decrease or disappear after age 40 years

•

en:mri shows fatty infiltration of affected muscles

•

en:absence of laminin alpha-2 chain in muscle

•

en:abnormal mitochondria in skeletal muscle biopsy

•

en:biopsy of adipose tissue shows reduced adipocyte size

•

en:calcific tendinopathy, early-onset (in some patients)

•

en:decreased muscle mass (especially in lower limbs)

•

en:exercise-induced weakness

•

en:lipid storage, mainly in type i fibers

•

en:muscle weakness, severe, diffuse

•

en:muscle weakness and atrophy, proximal

•

en:abnormal muscle tone

•

en:neurogenic atrophy

•

en:stiffness (uncommon)

•

en:'sloping' shoulders due to muscle atrophy

•

en:atrophy of neck muscles may occur later

•

en:hypertonicity of the lower limbs

•

en:muscle cramps during exercise

•

en:increased muscle tone in the lower limbs

•

en:deep rerouting of lymph in lower limbs seen on lymphoscintigraphy

•

en:fatigue

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

en:muscle weakness, distal, restricted to the lower limbs

•

en:shortened open channel duration

•

en:usually no myopathic changes on biopsy

•

en:abnormal distribution of subcutaneous fat

•

en:defect in glycosylation of alpha-dystroglycan seen on skeletal muscle biopsy

•

en:deficiency of mitochondrial respiratory enzymes seen on muscle biopsy

•

en:generalized hypotonia due to defect at the neuromuscular junction

•

en:hypotrophic type 2 muscle fibers

•

en:muscle weakness due to peripheral neuropathy

•

en:myofibril destruction (in some patients)

•

en:atrophy of type 1 and type 2 fibers

•

en:hyaline inclusion

•

en:muscle atrophy, diffuse, severe

•

en:muscle biopsy shows core-like regions devoid of oxidative activity

•

en:myoclonic spasms

•

en:proximal amyotrophy

•

en:weakness and wasting of the lower limbs

•

en:decreased levels and activity of mitochondrial respiratory complexes i and iv

•

en:neonatal hypotonia muscle biopsy shows pas-positive vacuoles

•

en:myopathic features seen on emg

•

en:myopathic changes on pathology

•

en:muscle biopsy may show deficiency of multiple mitochondrial respiratory complexes

•

en:nemaline bodies (rods) on gomori trichrome staining seen on muscle biopsy

•

en:myopathic pattern seen on emg (in some patients)

•

en:neck muscle hypoplasia

•

en:necrotic and atrophic fibers with centralized nuclei seen on muscle biopsy

•

en:muscle weakness of the face and neck, mild to moderate

•

en:muscular appearance

•

en:muscle fibers contain internal nuclei

•

en:muscle weakness associated with fasting or infection

•

en:muscle pain following exercise (in some patients)

•

en:muscle hyperirritability

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:muscle coenzyme q deficiency

•

en:muscle biopsy shows merosin (156225)-positive muscle fibers

•

en:muscle biopsy shows lipid deposition

•

en:muscle biopsy shows grouped atrophy

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

en:nemaline rods (rare)

•

en:ragged red fibers, mainly in type i fibers seen on skeletal muscle biopsy

•

en:neurogenic changes seen on emg

•

en:proximal muscles more often affected

•

en:tetanus-like muscle contractions

•

en:subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy

•

en:reduced subcutaneous fatty tissue

•

en:reduced postsynaptic cleft area

•

en:reduced muscle tone but normal power

•

en:multiple mitochondrial dna (mtdna) deletions seen on muscle biopsy

•

en:quadriceps aplasia

•

en:proximal weakness of the lower limbs with longer disease duration

•

en:proximal muscle involvement may occur

•

en:prominent muscular appearance

•

en:neuropathic or myopathic changes seen on emg

•

en:progressive interictal weakness is common

•

en:progressive distal muscle weakness

•

en:premature exertional muscle weakness

•

en:predominance of oxidative fibers

•

en:positive staining for slow myosin heavy chain

•

en:patchy muscle fiber degeneration

•

en:onset of weakness in hands and feet

•

en:no myofibrillar abnormalities or protein aggregation

•

en:normal dystrophin immunostaining

•

en:nonspecific myopathic changes without dystrophic or inflammatory changes seen on muscle biopsy

•

en:muscle atrophy, distal, particularly affecting the hands muscle biopsy shows variation in fiber size

•

en:emg shows myopathic or neurogenic changes

•

en:mild weakness

•

en:cytochrome c oxidase-negative fibers

•

en:distal muscles may be affected

•

en:difficulty walking on heels occurs prior to difficulty walking on toes

•

en:dermal or subcutaneous infiltrate of spindle-shaped cells arranged in a whorled pattern seen on histology

•

en:decreased glycosylation of alpha-dystroglycan

•

en:decreased coenzyme q10

•

en:decreased activity of cytochrome c oxidase in most cases seen on muscle biopsy

•

en:decreased activities of mitochondrial complexes i, ii, and iii

•

en:decreased activities of complexes i and iv

•

en:decreased achr at the endplate

•

en:buffalo hump

•

en:distal muscle weakness and atrophy, upper and lower limbs

•

en:a subset of patients have aggravation on cold exposure ('cold paresis')

•

en:atrophy of the thenar and hypothenar muscles

•

en:angular fibers (in some patients)

•

en:angioedema

•

en:amyloid deposition in muscle fibers occurs rarely

•

en:adipose tissue shows many adipocytes with multiple small lipid droplets rather than a normal single lipid droplet

•

en:acute rhabdomyolysis

•

en:accelerated decay of the synaptic current

•

en:abnormal subcutaneous fat tissue distribution

•

en:tremor of the upper limb

•

en:distal muscle weakness, occurs initially

•

en:distal muscle weakness of the lower limbs secondary to peripheral neuropathy

•

en:loss of subcutaneous adipose tissue primarily in gluteal region and lower limbs

•

en:hemihypertrophy of right arm and leg (rare)

•

en:loose connective tissue

•

en:lipid and glycogen accumulation

•

en:intracellular granular osmiophilic deposits

•

en:increased variability in muscle fiber diameter

•

en:increased fibrosis (in some patients)

•

en:increased fat and fibrous tissue

•

en:inclusions form a lobulated structure seen on electron microscopy

•

en:hypotonia, mild

•

en:hypoplasia of cervical paravertebral muscles

•

en:generalized weakness (adult-onset)

•

en:distal muscular atrophy due to peripheral neuropathy

•

en:generalized muscle weakness

•

en:fiber size variation seen on biopsy (in some patients)

•

en:fiber size variation

•

en:extensor finger muscle weakness

•

en:excess fat, symmetrically located in buttocks and lower extremities to ankles

•

en:emg shows chronic denervation

•

en:emg and muscle biopsy shows chronic denervation of the peripheral nerves

•

en:easy fatigability

•

en:dystrophic features

•

en:dystrophic changes seen on muscle biopsy

•

en:thenar amyotrophy (rare)

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

en:type 1 fibers with inclusions containing myh7 protein aggregates

•

en:myopathy (in some patients)

•

en:progressive widening of synaptic clefts that are filled with amorphous debris seen on muscle biopsy

•

en:progressive distal and proximal symmetric limb weakness

•

en:predominantly lower limb lymphedema

•

en:poor sarcomeric structure (in some patients)

•

en:percussion-induced muscle mounding (muscle rippling)

•

en:paucity or absence of lymph nodes in the axillae and above the inguinal ligaments seen on scintilymphangiography

•

en:neurogenic atrophy seen on muscle biopsy

•

en:myxedematous appearance

•

en:myotonia is most pronounced in the extremities

•

en:myopathic and neurogenic changes seen on emg

•

en:proximal muscle weakness (occasional)

•

en:myogenic profile on electromyography

•

en:muscle weakness is predominantly of extremities and tongue

•

en:muscle weakness in forearm muscles

•

en:muscle weakness following prolonged exercise

•

en:muscle weakness, severe

•

en:muscle weakness, proximal limb muscle, mild to moderate

•

en:muscle weakness, mainly proximal

•

en:muscle biopsy shows variation in fiber size

•

en:muscle biopsy shows myofibrillar changes

•

en:muscle biopsy shows glycogen storage

•

en:prolonged endplate potentials

•

en:proximal weakness

•

en:multiple mitochondrial dna (mtdna) deletions (in most cases)

•

en:tubular aggregates seen on muscle biopsy

•

en:marinesco-sjogren syndrome

•

en:wheelchair dependency in 20% of patients by age 40

•

en:weakness worsened by activity

•

en:type 1 muscle fiber predominance

•

en:variation of myofiber diameter

•

en:variability in fiber size

•

en:vacuolar degeneration

•

en:type 1 fiber atrophy

•

en:type 1 fibers are at least 12% smaller than type 2 fibers

•

en:tremor at birth, involving most skeletal muscle groups, especially jaw muscles and lower limb muscles

•

en:recovery between attacks

•

en:thin filament shortening and disorganization (in some patients)

•

en:thick palmar fascia

•

en:subsarcolemmal mitochondrial aggregates

•

en:soft fleshy palms (50%)

•

en:skeletal muscle biopsy shows hypertrophy of type 1 and 2 muscle fibers

•

en:secondary myopathic changes

•

en:rupture of muscle

•

en:replacement of myofibers with connective tissue

•

en:repetitive compound muscle action potentials (cmap) in response to single stimulus

•

en:reduced ankle dorsiflexion

•

en:muscle biopsy shows deficiency of mitochondrial respiratory enzymes i, iii, iv, and iv

•

en:weakness of the intrinsic hand muscles (in some patients)

•

en:motor clumsiness

•

en:atrophic fibers seen on biopsy

•

en:decreased cytochrome c oxidase (cox) activity and protein

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

en:decreased amplitude of miniature endplate potentials (mepp)

•

en:decreased activity of mitochondrial complexes i and iv seen on skeletal muscle biopsy

•

en:decreased activities of several mitochondrial respiratory enzymes

•

en:congophilic deposits

•

en:benign soft tissue developmental anomalies

•

en:autophagic vacuoles with multilamellar structures seen on electron microscopy

•

en:attacks precipitated by potassium

•

en:atrophic calf muscles

•

en:defects in mitochondria respiratory activities, mainly complexes i, ii, and iv

•

en:asymmetric muscle involvement

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:absence of caveolin-3 staining

•

en:abnormal fat accumulation below the triceps (in some patients)

•

en:'hanging' big toe

•

en:z-line streaming see on electron microscopy

•

en:waddling gait

•

en:uterine muscle may be stiff during pregnancy

•

en:mild variability in muscle fiber size

•

en:umbilical depression

•

en:decreased postsynaptic achr

•

en:vacuoles are autophagocytic and contain granular and membranous cellular debris

•

en:delayed ambulation

•

en:hypotonia (patient a)

•

en:difficulty rising from a squatting position

•

en:levator palpebrae superioris atrophy

•

en:many fibers with internal nuclei

•

en:involves upper and lower proximal muscles

•

en:interosseus muscles involved

•

en:independent walking may not be achieved

•

en:increased fibrosis (family a)

•

en:increased fiber size variability

•

en:hypotonia (untreated hypothyroidism)

•

en:inability to jump or squat

•

en:hypotonia, profound

•

en:facial edema

•

en:disorganization of the myofibrillar pattern

•

en:edema (hands and feet)

•

en:hypoplasia of supraspinatus muscle

•

en:electromyography shows myotonic discharges

•

en:fiber size variation seen on muscle biopsy

•

en:fibromyalgia

•

en:generalized hypotonia

•

en:hangrip myotonia

•

en:mildly decreased laminin alpha-2 expression (lama2, 156225)

•

en:necrosis and degeneration seen on muscle biopsy

•

en:muscle weakness, limb-girdle (lower and upper limbs may be affected)

•

en:myotonic discharges in the absence of clinical myotonia seen on emg

•

en:myogenic changes seen on emg

•

en:muscle weakness (1 patient)

•

en:muscle weakness, upper and lower limbs

•

en:muscle weakness, proximal, distal, and axial, severe

•

en:muscle weakness, particularly of the lower limbs

•

en:mitochondrial proliferation

•

en:muscle hypertrophy of the lower extremities

•

en:muscle fiber necrosis

•

en:muscle biopsy shows peripheral accumulation of abnormal mitochondria

•

en:muscle biopsy shows neurogenic atrophy

•

en:muscle biopsy shows mitochondrial aggregates

•

en:muscle biopsy shows dystrophic pattern

•

en:muscle amyotrophy

•

en:mtdna deletions seen on muscle biopsy

•

en:motor delay

•

en:mitochondrial dna deletions (in some patients)

•

en:neonatal hypertonias

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:non-pitting edema

•

en:smooth muscle may also become involved

•

en:abnormal glycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:minicore regions are poorly defined and do not extend through entire fiber length

•

en:abnormal axons with sprouting and swelling

•

en:z-band streaming

•

en:weak extraocular muscles

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:upper limb muscle weakness may be more severe than lower limb weakness

•

en:transient muscle weakness occur in 75% of patients, particularly in the arms and hands

•

en:superior rectus atrophy

•

en:skeletal muscle tissue shows depletion of mitochondrial dna (mtdna)

•

en:no facial muscle involvement

•

en:skeletal muscle biopsy shows enlarged mitochondria with abnormal cristae decreased mitochondrial complex i activity

•

en:shoulder muscle hypoplasia

•

en:scattered necrotic fibers

•

en:rounded, atrophic fibers (family a)

•

en:rhabdomyolysis, episodic and recurrent

•

en:respiratory distress (congenital form)

•

en:rectus abdominis muscle separation

•

en:ragged-red fibers seen on muscle biopsy

•

en:proximal upper limb amyotrophy

•

en:positive staining for atpase activity at ph of 4.3

•

en:minimal subcutaneous fat

•

en:fibrous dysplasia (rare)

•

en:mild atrophy of the proximal lower limbs

•

en:decreased glycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:easily fatigued (finding)

•

en:distal lower limb muscle weakness and atrophy

•

en:disruption in the basal lamina seen on skeletal muscle biopsy

•

en:deposition of complement proteins c5b-9 of the membrane attack complex on muscle fibers

•

en:degenerating mitochondria

•

en:decremental muscle response to repetitive nerve stimulation

•

en:decreased numbers of acetylcholine receptors (achr) in the postsynaptic membrane (less than 50% of normal)

•

en:decreased muscle mass (especially of limbs)

•

en:decreased activity of mitochondrial respiratory complexes i, iii, and iv in muscle tissue

•

en:edema at birth

•

en:cytochemical and em muscle studies show large, bizarre mitochondria in striated muscle

•

en:cox-negative fibers seen on muscle biopsy

•

en:calcific tendinitis

•

en:biopsy shows myopathic and dystrophic changes

•

en:biopsy muscle normal

•

en:atrophic fibers

•

en:ankle reflex absent

•

en:angulated atrophic muscle fibers

•

en:absence of pectoralis minor muscle

•

en:edema, generalized

•

en:enteroviral dermatomyositis syndrome

•

en:lymphedema

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

en:lower and upper limbs affected

•

en:loss of subcutaneous fat, generalized

•

en:limb-girdle muscular dystrophy

•

en:large lipid droplets

•

en:jitter

•

en:infantile axial hypotonia

•

en:increased subcutaneous truncal adipose tissue

•

en:increased number of small endplates

•

en:increased muscle tone at birth

•

en:increased fibrosis

•

en:fatty replacement in hip muscles and proximal muscles of the lower limb seen on mri

•

en:increased central nucleation

•

en:inclusions stain positively with nitroblue tetrazolium (nbt)

•

en:hypotrophy of type 1 fibers

•

en:hypotonia, severe (patient b)

•

en:hypoplasia of serratus anterior muscle

•

en:hip girdle muscle weakness (usually presenting symptom)

•

en:group fiber atrophy (in some patients)

•

en:generalized lipodystrophy (abnormal distribution of subcutaneous fat)

•

en:foot-drop

•

en:absence of merosin in muscle

•

en:increased mitochondria with abnormal cristae

•

en:absence of telethonin protein

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan (dag1, 128239)

•

en:myopathy with abnormal lipid metabolism

•

en:myopathic changes early in disease seen on emg

•

en:muscular dystrophy (in 1 of 3 patients)

•

en:muscle weakness and atrophy, distal

•

en:muscle weakness, mild, proximal and distal

•

en:muscle pain with exercise (in older patients)

•

en:muscle fiber immaturity

•

en:muscle biopsy shows type 2 fiber atrophy

•

en:muscle biopsy shows nemaline bodies (rods) on gomori trichrome staining

•

en:minipolymyoclonus

•

en:normal histopathology seen on muscle biopsy (in some patients)

•

en:minicores (in some)

•

en:mild muscular hypotonia

•

en:merosin-positive biopsy

•

en:loss of subcutaneous fat, diffuse

•

en:loss of lower-limb tendon reflexes

•

en:loss of gluteal adipose tissue

•

en:limb weakness, proximal followed by distal

•

en:lack of antigravity movements (patient b)

•

en:intranuclear inclusions (1 family)

•

en:noninflammatory myopathy with rimmed vacuoles and atrophic fibers seen on muscle biopsy

•

en:normal or increased facial adipose tissue

•

en:increased internal nuclei

•

en:swelling of the affected areas

•

en:aggregates contain granular electron-dense material

•

en:myopathy, centronuclear, 3

•

en:weakness of neck extensors (rare)

•

en:weakness

•

en:variation in skeletal muscle fiber diameter

•

en:variably decreased alpha-dystroglycan expression (dag, 128239)

•

en:tetany

•

en:tenderness of lower extremities

•

en:symmetrical, proximal limb muscle atrophy (pelvic, scapular, trunk muscles)

•

en:slowly progressive limb-girdle myopathy

•

en:pectoralis major hypoplasia

•

en:signs of denervation seen on biopsy

•

en:repetitive response to single nerve stimulus

•

en:ragged red fibers seen on skeletal muscle biopsy

•

en:ragged-red fibers on muscle biopsy

•

en:proximal muscle weakness, upper and lower limbs, due to peripheral neuropathy, later in disease course

•

en:proximal limb muscle weakness initially

•

en:preservation of visceral, neck, and axillary fat pads

•

en:postexercise cmap amplitude facilitation

•

en:poor muscle mass

•

en:increased mitochondria seen on muscle biopsy

•

en:weakness of ankle and toe extensor (dorsiflexor) muscles

•

en:increased centralized nuclei

•

en:centralized nuclei may be seen

•

en:decremental response of compound muscle action potential on repetitive nerve stimulation

•

en:decremental compound muscle action potential on repetitive stimulation

•

en:decremental cmap response to repetitive nerve stimulation

•

en:decreased sarcolemmal immunostaining for ptrf

•

en:decreased or absent ankle reflexes

•

en:decreased muscle bulk (in one patient)

•

en:decreased collagen vi

•

en:congenital absence of gluteal muscles

•

en:chronic fatigable muscles

•

en:calf muscle weakness

•

en:difficulty in toe walking

•

en:calf muscle hypoplasia

•

en:calf hypertrophy (less common)

•

en:calf hypertrophy (early in the disease)

•

en:by fourth decade, many patients need help with ambulation

•

en:biopsy shows myopathy without vacuoles

•

en:bilateral foot drop

•

en:atrophy of shins

•

en:areflexia due to muscle weakness

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

en:denuded postsynaptic regions

•

en:autophagic rimmed vacuoles

•

en:difficulty walking and climbing stairs (patient a)

•

en:exercise-induced muscle cramps

•

en:distal amyotrophy

•

en:hypertonicity (uncommon)

•

en:hypotonia, severe, persistent

•

en:greater soleus involvement than gastrocnemii involvement seen on mri

•

en:granular deposits in the sarcomeres

•

en:generalized muscle weakness, severe

•

en:fragmented mitochondrial network

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:hernia

•

en:emg shows myopathic pattern

•

en:distal muscle weakness and atrophy may occur, upper and lower limbs affected

•

en:emg may show neurogenic changes

•

en:distal muscle atrophy due to denervation

•

en:distal limb muscle atrophy due to peripheral neuropathy

•

en:distal muscle weakness, upper and lower limbs

•

en:distal muscle weakness due to neuropathy

•

en:distal muscle weakness in lower limbs, severe

•

en:edema reoccurs with infections

•

en:emg - repetitive muscle discharges

•

en:reduced muscle bulk

•

en:reduced activity of mitochondrial respiratory chains (1 family)

•

en:pseudohypertrophy of muscle

•

en:preserved heel standing

•

en:poor head control in infancy

•

en:percussion-induced rapid rolling muscle contractions (pirc)

•

en:pena-shokeir syndrome type i

•

en:partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue)

•

en:muscle weakness trunk

•

en:myopathy seen on emg

•

en:myopathic pattern on emg

•

en:myopathic changes seen on emg and muscle biopsy

•

en:myopathic changes, nonspecific, seen on muscle biopsy

•

en:muscle weakness (type i)

•

en:muscle weakness, hypokalemia-related

•

en:muscle weakness

•

en:muscle strength and bulk is preserved

•

en:muscle mitochondria normal by histochemical analysis

•

en:muscle cramps, painful, recurrent

•

en:relative sparing of the rectus femoris

•

en:ubiquinone decreased

•

en:repetitive action potentials in response to single nerve stimulation

•

en:vacuoles appear to be exocytosing material at the cell surface

•

en:atrophy of the small muscles in the hands and feet

•

en:muscle biopsy shows no dystrophic changes

•

en:atrophy of affected muscles, especially intrinsic hand muscles

•

en:anterior tibial muscles first involved

•

en:amyotrophy (1 patient)

•

en:abnormal fat pad, buttocks and upper thighs (in some patients)

•

en:abnormal fat accumulation in the back (in some patients)

•

en:variable decreases in mitochondrial respiratory complex enzyme activities

•

en:usually a unilateral disorder

•

en:secondarily decreased activities of mitochondrial respiratory enzymes (in some patients)

•

en:upper limb involvement and distal muscle involvement may occur later in disease course (often by second decade)

•

en:trunk muscle atrophy

•

en:thenar muscle atrophy

•

en:subsarcolemmal aggregates of abnormal mitochondria with concentric lamellar membranes

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy

•

en:skeletal muscle biopsy shows reducing bodies

•

en:shortened open achr channel duration

•

en:severe muscular hypotonia

•

en:secondary loss of sarcolemmal caveolin-3

•

en:muscle biopsy shows rimmed vacuoles

•

en:emg shows spontaneous, repetitive electrical activity ('myotonic runs')

•

en:muscle biopsy shows fiber type variation (in some patients)

•

en:cores with lack of oxidative activity and mitochondrial depletion may also be found and extend along length of fiber

•

en:edematous hands and feet (1 patient)

•

en:difficulty running and jumping

•

en:difficulty climbing stairs, jumping, running

•

en:decreased numbers of achr seen on muscle biopsy

•

en:decreased mitochondrial respiratory activities (in some patients)

•

en:decreased mitochondrial complex iv activity (in some patients)

•

en:decreased lactate clearance from muscle after exercise (reported in 1 patient)

•

en:decreased atp production

•

en:chronic denervation seen on skeletal muscle biopsy

•

en:electron microscopy showed z-disk streaming

•

en:both type 1 and type 2 fiber predominance has been reported

•

en:atrophy of ankle and toe extensor (dorsiflexor) muscles

•

en:atrophic skeletal muscle fibers on myosin staining

•

en:ankle clonus

•

en:absence of collagen vi immunostaining

•

en:abnormal z bands

•

en:abnormal iron deposition in mitochondria

•

en:a subset of patients develop bilateral weakness

•

en:edema of lower extremity

•

en:emg shows increased insertion activity and fibrillation

•

en:muscle biopsy shows cytochrome c oxidase-negative fibers

•

en:marked lack of adipose tissue

•

en:muscle atrophy later in the disease

•

en:muscle atrophy, mild, more proximal than distal

•

en:muscle atrophy, limb-girdle and proximal

•

en:muscle

•

en:mitochondria are placed at the periphery of muscle fibers

•

en:mitochondrial dna depletion (in some)

•

en:minicores extend full fiber diameter

•

en:mildly increased mtdna

•

en:loss of facial adipose tissue

•

en:episodic weakness may or may not occur independent of myotonia

•

en:lipomas or lipomatous masses (most cases)

•

en:lipid droplet accumulation

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:increased muscle tone, neonatal (in severely affected patients)

•

en:increased muscle glycogen content

•

en:increased connective tissue and fat in muscles

•

en:familial generalized lipodystrophy

•

en:exertional leg pain

•

en:exercise-induced myalgia

•

en:atrophy of upper girdle muscles

•

en:calf muscle enlargement

•

en:nonspecific myopathic changes seen on biopsy (in some patients)

•

en:myofibrillar myopathy

•

en:nemaline rods may be observed

•

en:necrotic and regenerating fibers

•

en:necrotic and atrophic fibers with centralized nuclei

•

en:necrosis

•

en:myotonic discharges

•

en:myotonia (usually occurs during rapid voluntary muscle movements after a period of rest)

•

en:myopathic changes seen on emg of affected muscle

•

en:myopathic changes seen on emg

•

en:muscle weakness, episodic

•

en:nuclear clumps

•

en:muscle biopsy shows nonspecific myopathic changes without dystrophic or inflammatory changes

•

en:muscle biopsy shows necrotic and atrophic fibers with centralized nuclei

•

en:muscle atrophy, severe

•

en:muscle activity is electrically silent on emg

•

en:muscles do not contract upon electrical stimulation

•

en:mri shows increased signal intensity in affected muscles consistent with fatty infiltration

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:low muscle mass

•

en:nerve conduction studies normal

•

en:pelvic muscle involvement occurs later

•

en:low-amplitude compound muscle action potential (cmap)

•

en:sarcomere disappearance seen on muscle biopsy

•

en:type 2 fiber hypertrophy

•

en:cores have abrupt borders within normal regions of the muscle fiber

•

en:symptoms are progressive for a few years, and then become stationary

•

en:streaming of the z-disk seen on electron microscopy

•

en:small and incompletely fused muscle fibers seen on biopsy

•

en:skeletal muscle biopsy shows dystrophic changes

•

en:scapuloperoneal amyotrophy

•

en:scapular muscle atrophy

•

en:ring fibers

•

en:peroneal muscle atrophy

•

en:respiratory muscles may be involved (more common in juvenile-onset)

•

en:reduced muscle mass

•

en:ragged red fibers (in some patients)

•

en:proximal muscle atrophy (in some patients)

•

en:prominent musculature

•

en:prolonged achr channel opening episodes

•

en:progressive loss of facial adipose tissue

•

en:preserved nerve terminals seen on muscle biopsy

•

en:plaques immunoreactive for desmin and alpha-beta-crystallin

•

en:lower limbs more affected than upper limbs

•

en:muscle pain and cramps following exercise

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:distal muscle weakness, mild

•

en:emg consistent with chronic neurogenic disorder

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:electron microscopy shows abnormal mitochondria with disorganized and vacuolated cristae

•

en:edema of hands and feet (in some patients)

•

en:edema

•

en:easy bruisability of lower extremities

•

en:lipoatrophy (lower face, upper limb, buttock)

•

en:distal muscle weakness of the upper limbs (in some patients)

•

en:distal muscle wasting, mild

•

en:emg shows myopathic features

•

en:distal atrophy of the legs

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

en:depletion of mitochondrial dna

•

en:decreased spontaneous miniature endplate potentials (mepp)

•

en:decreased shank muscle mass

•

en:decreased quantal release

•

en:decreased activity of cytochrome c oxidase seen on muscle biopsy

•

en:decreased activities of complexes i, iii, and iv, variable

•

en:cranial muscles spared

•

en:emg shows myopathic and neurogenic changes

•

en:dysarthria

•

en:endplate myopathy

•

en:hypoplasia of infraspinatus muscle

•

en:increased numbers of endplate regions seen on muscle biopsy

•

en:increased length of endplate regions seen on muscle biopsy

•

en:increased fatigue

•

en:increased echo intensity in affected muscles

•

en:increased connective tissue and fat

•

en:inclusion bodies seen on biopsy (in some patients)

•

en:hypotrophy of the small hand muscles

•

en:hypotonia from birth to age 12

•

en:impaired mitochondrial respiration

•

en:hand and foot weakness

•

en:facial paresis

•

en:extensive fatty infiltration on biopsy

•

en:gluteal hypoplasia

•

en:frontalis muscle weakness

•

en:focal areas of z-band disarray devoid of mitochondria seen on electron microscopy

•

en:fiber-type predominance seen on muscle biopsy (in some patients)

•

en:fat accumulation in the suprabuttock area

•

en:glycogenosis of skeletal muscle, mild (in some patients)

•

en:myopathic changes seen on biopsy

•

en:myotonia, cold-sensitive, predominantly of face, tongue, forearm, and hand precipitated by muscle cooling or cold exposure or rest after exercise

•

en:neck and proximal limb muscle myopathy

•

en:normal phosphorylase kinase activity in muscle

•

en:neurogenic abnormalities seen on emg

•

en:normal or increased adipose tissue around the neck

•

en:normal or increased facial and neck adipose tissue

•

en:muscle weakness (in 90% of patients)

•

en:no rods

•

en:muscle weakness increases with age

•

en:low maximum workload on exercise testing

•

en:muscle weakness, proximal greater than distal

•

en:muscle weakness, distal, particularly affecting the hands

•

en:muscle wasting due to chronic denervation

•

en:muscle biopsy shows type i fiber predominance

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:muscle atrophy appears later in disease course

•

en:lymphedema of the extremities

•

en:loss of subcutaneous adipose tissue from upper limbs and trunk

•

en:loss of subcutaneous fat

•

en:pectoralis hypoplasia

•

en:pain or cramping during sustained manual activity

•

en:tubulofilamentous inclusions

•

en:plantar fibromatosis

•

en:slowly-progressive muscle wasting and weakness with humeroperoneal and scapuloperoneal distribution

•

en:limb muscular atrophy

•

en:triceps weakness

•

en:thigh hypertrophy

•

en:symptoms may be induced by heat

•

en:subsarcolemmal nemaline bodies (rods) on gomori trichrome staining

•

en:subcutaneous fat markedly reduced (in some patients)

•

en:some patients never achieve ambulation

•

en:small endplate

•

en:slow motor responses to sudden events (i.e., falling)

•

en:shoulder muscle weakness (in some patients)

•

en:proximal lower limb amyotrophy

•

en:severe muscle hypotonia at birth

•

en:scapular muscle weakness

•

en:rupture of tendon

•

en:rhabdomyolysis with exercise (in older patients)

•

en:rhabdomyolysis

•

en:repetitive response to single nerve stimulation

•

en:rare necrotic fibers

•

en:proximal muscle weakness, mild (in some patients)

•

en:proximal muscle weakness, less severe

•

en:loss of sarcomeric striations

•

en:amyotrophy of the upper limbs (in some patients)

•

en:lack of facial subcutaneous fat

•

en:biopsy shows nonspecific myopathy without rimmed vacuoles

•

en:difficulty raising arms

•

en:decremental compound muscle action potential (cmap) in response to repetitive nerve stimulation seen on emg

•

en:decreased expression of the vdac1 protein

•

en:decreased caveolin-3 expression on muscle biopsy

•

en:decreased activity of respiratory complex i+iii

•

en:decreased activity of complex i and complex iv

•

en:congenital fiber type disproportion

•

en:congenital, nonprogressive myopathy

•

en:calf muscle hypertrophy

•

en:biopsy shows deposition of complement proteins c5b-9 of the membrane attack complex on muscle fibers or in vacuoles

•

en:disruption plasma membrane (in some patients)

•

en:axial muscle hyperextension, episodic

•

en:autophagic vacuoles seen on biopsy (in some patients)

•

en:attacks last 4 to 24 hours

•

en:atrophy of type i fibers

•

en:atrophy, neurogenic muscular

•

en:apoptotic nuclei

•

en:absence of muscle pseudohypertrophy

•

en:abnormal muscle fibers with amorphous, granular, or hyaline deposits

•

en:abdominal wall muscle weakness (later onset)

•

en:difficulty walking and climbing stairs

•

en:distal limb muscle atrophy (less common)

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

en:fat pad anterior to malleolus

•

en:increased numbers of type 1 fibers

•

en:increased connective tissue (in some patients)

•

en:hypotonia, severe, neonatal

•

en:hypertonia late

•

en:handgrip myotonia

•

en:gluteus maximus and thigh adductors most affected

•

en:focal loss of cross striations seen on muscle biopsy

•

en:focal degeneration of junctional folds ('honeycombed' appearance) see on muscle biopsy

•

en:fibrillations in affected muscles

•

en:endplate abnormalities

•

en:distal limb muscle weakness (less common)

•

en:emg shows neurogenic changes

•

en:electrophysiologic studies show abnormal inactivation and delayed repolarization of the scn4a sodium channel

•

en:electron microscopy shows dense material emanating from the z-disk

•

en:dystrophic changes, mild, seen on muscle biopsy

•

en:dysphonia

•

en:distal muscle weakness may occur

•

en:distal muscle atrophy due to neurologic disease

•

en:distal muscle atrophy (lower limbs more affected than upper limbs)

•

en:distal muscle atrophy, upper and lower limbs, due to peripheral neuropathy mitochondrial complex iv deficiency

•

en:tubular aggregates in muscle fibers may occur

•

en:subsarcolemmal accumulation of enlarged mitochondria with variably sized rectangular or elongated rhomboidal paracrystalline inclusions

•

en:upper and/or lower limbs may be affected

•

en:muscle hypertrophy (meb)

•

en:normal or increased truncal adipose tissue

•

en:normal or increased abdominal adipose tissue

•

en:neurogenic changes later in disease seen on emg

•

en:nemaline bodies are rarely intranuclear

•

en:myopathy, mild to severe

•

en:myopathic changes seen muscle biopsy

•

en:muscular atrophy

•

en:muscle weakness, proximal and distal

•

en:muscle wasting in lower limbs

•

en:muscle cramp

•

en:patients achieve independent ambulation, but may lose it

•

en:muscle biopsy shows pleomorphic hyaline, granular, and amorphous deposits that stain with gomori trichrome

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

en:muscle biopsy shows decreased or absent dysferlin staining

•

en:muscle atrophy, primarily in the legs

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:muscle, weakness, distal, hands and fingers (in some patients)

•

en:multiple mitochondrial dna deletions

•

en:mri may show cervical spinal cord atrophy

•

en:mild muscle atrophy in forearm muscles

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

en:macroglossia

•

en:some subcutaneous adipose tissue may remain on upper arms

•

en:z-disk degeneration

•

en:z-disk streaming

•

en:wide variation in fiber size

•

en:weakness of the anterior tibial muscle and toe extensors

•

en:wasting, especially temporal, neck, and facial muscles

•

en:vacuolar myopathy

•

en:upper limb involvement may occur later

•

en:type i fibers with large, irregularly polygonal congophilic hyaline masses and nemaline rods consistent with nonlysosomal protein degradation

•

en:truncal hypotonia (family a)

•

en:some patients become wheelchair-dependent

•

en:pyruvate oxidation defect

•

en:small nerve terminals

•

en:small miniature endplate currents (mepc)

•

en:shoulder weakness

•

en:shoulder girdle weakness

•

en:shortening of various muscle-tendon groups in legs

•

en:rimmed vacuoles on biopsy

•

en:retroperitoneal fibrosis (rare)

•

en:relative muscle weakness, especially in pelvic girdle

•

en:reduced miniature endplate potential (mepp) amplitude

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue) (1 family)

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:decreased activity of mitochondrial complex iii

•

en:distal lower limb muscle weakness due to peripheral neuropathy

•

en:difficulty walking, running, climbing stairs

•

en:deposits immunoreactive to beta-amyloid protein

•

en:decreased postsynaptic folding at the neuromuscular junction

•

en:decreased numbers of achr

•

en:decreased muscle action potential after warming affected muscle

•

en:decreased mitochondrial complex v activity

•

en:decreased exercise tolerance

•

en:decreased distal reflexes

•

en:decreased activity of cytochrome c oxidase (in most cases)

•

en:distal muscle weakness, lower legs

•

en:decreased activities of mitochondrial-encoded respiratory chain complexes

•

en:decreased achr

•

en:congophilic inclusions

•

en:centrally nucleated skeletal muscle fibers

•

en:centralized myonuclei

•

en:buffalo hump (rare)

•

en:absence of gamma-sarcoglycan protein

•

en:loss of adipose tissue occurs around puberty

•

en:muscle soft, tissue

•

en:distal muscle atrophy, predominantly lower limbs

•

en:decreased immunostaining for succinate dehydrogenase (mitochondrial complex ii)

•

en:emg shows high-frequency spontaneous discharges

•

en:hypertrophy of calves (in 3 of 6 patients)

•

en:localized cellulitis

•

en:lipoatrophy

•

en:lipid accumulation in muscle tissue

•

en:internal nuclei seen on biopsy (in some patients)

•

en:increased variability of fiber size seen on muscle biopsy

•

en:increased staining for myotilin, dystrophin, desmin

•

en:increased opening duration of acetylcholine receptor (achr)-induced ion channels

•

en:hypotonia (cvs+)

•

en:hypotonia, neonatal (in some patients)

•

en:hypotonic

•

en:head drop due to neck muscle weakness

•

en:giant granules in muscle cells

•

en:generalized muscle weakness, particularly affecting the limbs

•

en:generalized limb muscle atrophy

•

en:forearm muscle weakness

•

en:firm muscles

•

en:fiber necrosis

•

en:glycogen deficiency in muscle fibers

•

en:evidence of lymphatic rerouting

•

en:endomysial fibrosis

•

en:gait unsteady

•

en:gowers sign (patient a)

•

en:generalized neonatal hypotonia

•

en:generalized amyoplasia

•

en:excessive neutral fat and free fatty acids in type-i fibers

•

en:focal loss of cross- striations

•

en:fatty deposition

•

en:hypoplasia of muscle

•

en:emg shows myotonic changes

•

en:groups of atrophic fibers seen on muscle biopsy (type i fiber predominance)

•

en:mitochondrial myopathies

•

en:inability to sit or hold head up

•

en:increased adipose fibrosis

•

en:increased number of endplate regions distributed over increased span of muscle fiber

•

en:infantile muscular hypotonia

•

en:limb-girdle muscle weakness

•

en:loss of ability to walk in early childhood

•

en:lymphangitis, episodic

•

en:lymphedema (primarily in lower limbs, but also arms in some patients)

•

en:mitochondrial complex iii deficiency, isolated, seen on muscle biopsy

•

en:mri shows fatty replacement

•

en:edema, subcutaneous, generalized

•

en:emg shows fibrillations

•

en:angulated atrophic fibers

•

en:dystrophic changes

•

en:decreased cytochrome c oxidase staining

•

en:muscle biopsy shows mild dystrophic changes

•

en:anasarca

•

en:ankle edema (finding)

•

en:axial muscle weakness

•

en:biceps brachii atrophy

•

en:combined mitochondrial respiratory chain deficiency (in most patients)

•

en:complex v deficiency

•

en:cox-negative fibers

•

en:decreased activities of mitochondrial complexes i, iii, and iv

•

en:decreased glutamate oxidation (about 63% of normal)

•

en:distal weakness, upper and lower limbs (variable)

•

en:decreased muscle mass

•

en:decrement of the compound muscle action potential on repetitive stimulation

•

en:degenerating junctional folds

•

en:degenerative changes with increased connective tissue

•

en:denervation seen on emg

•

en:disruption of sarcomeres with disorganization of the z band

•

en:distal limb muscle weakness and atrophy

•

en:distal limb muscular atrophy due to peripheral neuropathy

•

en:distal muscle atrophy, lower limbs more severely affected than upper limbs

•

en:distal muscle weakness due to peripheral neuropathy, lower limbs more affected than upper limbs

•

en:muscle atrophy, mild

•

en:hypotonia

•

en:muscle biopsy shows neurogenic angulated fibers

•

en:skeletal muscle biopsy shows minor variation in fiber size

•

en:preserved junctional folds

•

en:reduced muscle tone

•

en:reduced subcutaneous adipose tissue

•

en:relative sparing of the tibialis anterior

•

en:rhabdomyolysis may occur

•

en:scapuloperoneal weakness

•

en:secondarily decreased activities of mitochondrial respiratory enzymes (1 patient)

•

en:secondary decrease of calpain-3 (capn3, 114240) protein expression in muscle

•

en:secondary loss of merosin and desmin

•

en:skeletal muscle damage

•

en:pharyngeal muscle weakness

•

en:subcutaneous edema

•

en:superficial rerouting of lymph through the skin

•

en:triceps aplasia

•

en:tubular aggregates mainly in type 2 fibers and are subsarcolemmal or intermyofibrillar and stain for nadh-tetrazolium reductase

•

en:type ii fiber atrophy seen on muscle biopsy

•

en:upper arm and pelvic muscle weakness and atrophy (later onset)

•

en:variable deficiencies of mitochondrial respiratory chain complexes i, iii, and iv

•

en:weakness of anterior compartment tibial muscles

•

en:berardinelli-seip congenital lipodystrophy

•

en:face edema

•

en:poor muscle build

•

en:pelvic girdle weakness

•

en:muscle biopsy shows type 1 fiber predominance

•

en:myopathy in approximately 45% of patients

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:muscle mounding

•

en:muscle weakness, congenital

•

en:muscle weakness, variable

•

en:muscle weakness after cooling or on warming affected muscle

•

en:muscular hypotonia of the trunk

•

en:myalgia

•

en:myalgia (in some patients)

•

en:myofibroma (in 1 patient)

•

en:myopathic pattern seen on emg

•

en:myotonia

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:myotonia, potassium-sensitive (may be responsive to acetazolamide)

•

en:nemaline bodies (rods) on gomori trichrome staining

•

en:neonatal edema (in some patients)

•

en:nonspecific myopathic changes

•

en:normal mitochondrial morphology (1 patient)

•

en:normal neonatal period may occur before weakness is apparent

•

en:no ragged-red fibers

•

en:no staining for oxidative enzymes

•

en:onset of lymphedema around puberty

•

en:paradoxical myotonia (myotonia increases with exercise)

•

en:adiposis on mri

◀

Génériques

[F] [H]

›

en:muscle

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7118575 • caches: c1=54 c2=1420 c3=317

+/-

♥

po

la

ti

le

as

ku

co

lo

to

ta

ta

xe

po

li

?!

!?

[Vider le cache]