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658 Possible Causes for Cold-Induced Muscle Cramps, Facial Muscle Atrophy, Myopathic Pattern (EMG)

Did you mean: Cold-Induced Muscle Cramps, Facial Muscle Atrophy, Myopathic Pattern (EMG

  • Oculo-Pharyngo-Distal Myopathy

    Weakness in masseter, facial, and bulbar muscles have been observed but no muscle group seems to be spared. Atrophy of facial muscles is common and may be pronounced.[disorders.eyes.arizona.edu] Serum creatine kinase levels were slightly increased and EMG revealed myopathic pattern with occasional myotonic discharges.[ncbi.nlm.nih.gov] Affected patients have a typical “hatchet-faced” appearance due to temporalis, masseter, and facial muscle atrophy and weakness.[clinicalgate.com]

    Missing: Cold-Induced Muscle Cramps
  • Ehlers-Danlos Syndrome Classic-Like Type 1

    Cases have been reported of patient manifesting chronic widespread pain, chronic headache occurring during pregnancy, depression and/or cold-induced muscle cramps, who have[bredagenetics.com] Facial dysmorphology. Congenital hearing impairment (sensorineural, conductive, or mixed). Follicular hyperkeratosis. Muscle atrophy. Bladder diverticula.[patient.info] cramps or myalgia.[bredagenetics.com]

  • Paramyotonia Congenita

    Five were interviewed; their symptoms began in early childhood, and included muscle cramping induced by exposure to cold or exertion (both in most cases).[mja.com.au] DM1: Characteristic facial appearance with frontal balding, atrophy in the temporal muscles, ptosis and tented upper lip. Distal muscles are more affected.[now.aapmr.org] Electromyography (EMG), performed in patients III:3 and III:5, revealed profuse myotonic discharges and myopathic changes, consisting of low amplitude, early recruitment pattern[doi.org]

  • Myoadenylate Deaminase Deficiency

    […] dysfunction with exercise intolerance, cramps and acute painful rhabdomyolysis or myoglobinuria (with or without myalgia) induced by fever, fasting or prolonged exercise,[neuroweb.us] She had slight muscle weakness in her facial and upper extremities, and severe muscle weakness and atrophy in lower extremities more marked in the proximal portions.[ncbi.nlm.nih.gov] Virtually any skeletal muscle can be affected - the facial muscles, the upper and lower extremities, or even a generalized presentation may be seen, and atrophy might also[symptoma.com]

  • Myoglobinuria

    […] dysfunction with exercise intolerance, cramps and acute painful rhabdomyolysis or myoglobinuria (with or without myalgia) induced by fever, fasting or prolonged exercise,[neuroweb.us] ; normal or weak facial muscles; cramps Cardiomyopathy LGMD2H (Manitoba Hutterite Dystrophy) TRIM32 / tripartite motif containing protein-32 Adulthood High Slow Variable LGMD2I[now.aapmr.org] The following features are emphasized: (1) persistence of limb weakness and elevated CK levels between the attacks, (2) a constant myopathic pattern in EMG, and (3) chronic[ncbi.nlm.nih.gov]

  • Autosomal Dominant Myoglobinuria

    […] dysfunction with exercise intolerance, cramps and acute painful rhabdomyolysis or myoglobinuria (with or without myalgia) induced by fever, fasting or prolonged exercise,[neuroweb.us] P.II-2 at 70 years old also presented with scapular winging, mild neck flexor weakness and sternocleidomastoid muscle atrophy.[jnnp.bmj.com] Needle EMG: myopathic pattern with positive waves and fibrillation potentials. Muscle bx shows small muscle fibers, type 1 muscle fiber predominance with central nuclei.[sites.google.com]

  • Facioscapulohumeral Muscular Dystrophy

    Facial muscle atrophy and weakness leads to drooping of the lower lip, which has unfavorable functional and aesthetic outcomes.[ncbi.nlm.nih.gov] myopathic pattern with short muscle unit action potential duration and an increased recruitment pattern.[genpharmservices.com] They showed the typical phenotype of FSHD2 such as asymmetric muscle weakness and atrophy in bilateral facial, scapular and humeral muscles, but different clinicopathological[ncbi.nlm.nih.gov]

    Missing: Cold-Induced Muscle Cramps
  • Emery-Dreifuss Muscular Dystrophy Type 2

    ; normal or weak facial muscles; cramps Cardiomyopathy LGMD2H (Manitoba Hutterite Dystrophy) TRIM32 / tripartite motif containing protein-32 Adulthood High Slow Variable LGMD2I[now.aapmr.org] pattern on EMG.[link.springer.com] Characterized by weakness of facial, shoulder, and upper arm muscles. Impaired ability to close eyes, move the lips, and raise arms overhead may occur.[physio-pedia.com]

    Missing: Cold-Induced Muscle Cramps
  • Distal Myopathy Type 3

    Marked facial weakness is observed in these patients with congenital myopathies. [2] Spinal Muscular Atrophy Distal spinal muscular atrophy is an autosomal recessive infantile[explainmedicine.com] The EMG shows a myopathic pattern and the muscle biopsy reveals dystrophic changes without the presence of rimmed vacuoles and absent dysferlin.[ruralneuropractice.com] The following features are however constantly present: atrophy of the intrinsic hand muscles, facial muscle involvement, myotonia and dystrophic changes in nonmuscular tissue[neuroweb.us]

    Missing: Cold-Induced Muscle Cramps
  • X-linked Distal Spinal Muscular Atrophy Type 3

    Bulbar muscular atrophy affects the bulbar and facial muscles with motor neurone loss in the brainstem. [ 1 ] The spinal muscular atrophies (SMAs) are a spectrum of genetically[patient.info] Other Nonspecific Clinical Findings [8] Electromyogram (EMG) usually show myopathic features with normal nerve conduction studies.[physio-pedia.com] Weakness and atrophy in the lower extremities are usually followed by problems with the pectoral girdle, facial muscles, distal limb, and bulbar muscles.[encyclopedia.com]

    Missing: Cold-Induced Muscle Cramps

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