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11 Possible Causes for Cold-Induced Muscle Cramps, Proximal Muscle Atrophy

  • Ehlers-Danlos Syndrome due to Tenascin-X Deficiency

    […] ache Muscle pain [ more ] 0003326 Proximal muscle weakness Weakness in muscles of upper arms and upper legs 0003701 Sensory neuropathy Damage to nerves that sense feeling[rarediseases.info.nih.gov] 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] Mild proximal and distal muscle weakness. Axonal polyneuropathy. Atrophy of muscles in hands and feet. Acrogeric hands, mallet finger(s), clinodactyly, brachydactyly.[patient.info]

  • Paramyotonia Congenita

    On the basis of clinical findings in this family, persistent proximal muscle weakness, myopathic EMG abnormalities, a type IIB atrophy on muscle biopsy and no symptoms but[ncbi.nlm.nih.gov] 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] All family members carrying the mutation had cold-induced paradoxical myotonia, myotonic bursts on EMG, and a type IIB atrophy on muscle biopsy.[ncbi.nlm.nih.gov]

  • Myoadenylate Deaminase Deficiency

    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] […] dysfunction with exercise intolerance, cramps and acute painful rhabdomyolysis or myoglobinuria (with or without myalgia) induced by fever, fasting or prolonged exercise,[neuroweb.us] Short-duration, low-amplitude motor unit potentials may be detected in proximal muscles.[emedicine.medscape.com]

  • Autosomal Dominant Myoglobinuria

    Vincristine Clinical features: Minimal muscle involvement Proximal muscles demonstrate slight fascicular necrosis Colchicine Rare muscle involvement Weakness and atrophy[neurodiffdx.com] […] dysfunction with exercise intolerance, cramps and acute painful rhabdomyolysis or myoglobinuria (with or without myalgia) induced by fever, fasting or prolonged exercise,[neuroweb.us] Symmetrical proximal weakness, atrophy, some distal muscle involvement Peripheral neuropathy Graves’ ophthalmopathy, extraocular muscle weakness Sarcoidosis myopathy Asymptomatic[clevelandclinicmeded.com]

  • Myoglobinuria

    Symmetrical proximal weakness, atrophy, some distal muscle involvement Peripheral neuropathy Graves’ ophthalmopathy, extraocular muscle weakness Sarcoidosis myopathy Asymptomatic[clevelandclinicmeded.com] […] dysfunction with exercise intolerance, cramps and acute painful rhabdomyolysis or myoglobinuria (with or without myalgia) induced by fever, fasting or prolonged exercise,[neuroweb.us] LGMD 2A (calpain 3) Childhood (8-15) There is mainly proximal muscle weakness. There is slow progression.[patient.info]

  • Subacute Cerebellar Degeneration

    […] with sparing of intermediate muscles Mild distal weakness 2 axonal neuropathy: Less prominent than sensory change Proximal weakness 2 type II muscle fiber atrophy Progression[neuromuscular.wustl.edu] […] dysfunction with exercise intolerance, cramps and acute painful rhabdomyolysis or myoglobinuria (with or without myalgia) induced by fever, fasting or prolonged exercise,[neuroweb.us] : Common 15% weight loss, or Late disease: Nearly 100% Polyneuropathy : Distal, Symmetric, Sensory Motor; Axonal Myopathy : Proximal 2 Type II muscle fiber atrophy Weakness[neuromuscular.wustl.edu]

  • Unilateral Hypoplasia or Absence of Pectoralis Major Muscle

    Talipes equinovarus Proximal muscle weakness Hernia Cardiomyopathy Hyporeflexia Distal muscle weakness Peripheral neuropathy Motor delay Limb muscle weakness Pica Abnormal[mendelian.co] […] atrophy Congenital muscular torticollis Myelin outfoldings Cold-induced muscle cramps Gait ataxia Limb-girdle muscle weakness Difficulty walking Abnormality of the mitochondrion[mendelian.co] atrophy Congenital muscular torticollis Myelin outfoldings Cold-induced muscle cramps Gait ataxia Limb-girdle muscle weakness Difficulty walking Abnormality of the mitochondrion[mendelian.co]

  • Antinolo-Nieto-Borrego Syndrome

    Adult onset Proximal muscle weakness Generalized limb muscle atrophy Atrophy of the spinal cord Frontotemporal dementia Gait ataxia Abnormality of the skeletal system Ataxia[mendelian.co] […] and atrophy.[nectarmutation.org] […] motor nerve conduction velocity Cold-induced hand cramps Limb muscle weakness Hammertoe Peroneal muscle weakness Brisk reflexes Urinary incontinence Urinary urgency Myopathy[mendelian.co]

  • Late-Onset Carnitine Palmitoyl Transferase II Deficiency

    […] or Distal; Arms & Legs Muscle atrophy Course Severe phenotype: Death in 1st year Mild phenotype: Survival to adulthood Treatment: Riboflavin (100 mg daily) Carnitine (2 g[neuromuscular.wustl.edu] 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] Short-duration, low-amplitude motor unit potentials may be detected in proximal muscles.[emedicine.medscape.com]

  • Severe Infantile Carnitine Palmitoyl Transferase II Deficiency

    […] or Distal; Arms & Legs Muscle atrophy Course Severe phenotype: Death in 1st year Mild phenotype: Survival to adulthood Treatment: Riboflavin (100 mg daily) Carnitine (2 g[neuromuscular.wustl.edu] 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] […] weakness Abdominal pain Proximal muscle weakness Fever Portal hypertension Acute hepatic failure Myopathy Hypertelorism Malabsorption Jaundice Cerebral cortical atrophy Cirrhosis[mendelian.co]

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