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39 Possible Causes for Allelic Disorder to Hyperkalemic Periodic Paralysis, Cold-Induced Muscle Cramps

  • 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] This is a disorder allelic to hyperkalemic periodic paralysis. There is a variant autosomal dominant form [MIM*168350] in which cold is not a provoking factor.[medigoo.com] (hyperkalemic periodic paralysis [HYPP]) and temperature‐sensitive (paramyotonia congenita [PC]) forms.[scholars.northwestern.edu]

  • 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] Mutations in SCN4A can produce the clinical phenotypes of hyperkalemic and normokalemic periodic paralysis (hyperKPP), paramyoto-nia congenita, and potassium-aggravated myotonia[what-when-how.com] […] valproate therapy, cold exposure (carnitine palmitoyltransferase I and II deficiency (CPT I/II) or (3) both (LCAD, VLCAD, short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCAD[neuroweb.us]

  • 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] Mutations in SCN4A can produce the clinical phenotypes of hyperkalemic and normokalemic periodic paralysis (hyperKPP), paramyoto-nia congenita, and potassium-aggravated myotonia[what-when-how.com] […] valproate therapy, cold exposure (carnitine palmitoyltransferase I and II deficiency (CPT I/II) or (3) both (LCAD, VLCAD, short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCAD[neuroweb.us]

  • Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis

    Dominant Genetics Mutation Missense Arg83His Same mutation found in controls & unaffected family members 9 Allelic disorder: Hyperkalemic periodic paralysis Clinical: 2 families[neuromuscular.wustl.edu] […] slow inactivation Periodic paralysis Myotonia Exacerbated by cold Hypokalemic periodic paralysis: HOKPP3 KCNE3 ; Chromosome 11q13.4; ?[neuromuscular.wustl.edu] K level during episodes: 1.4 (1 patient) Pathology: Tubular aggregates in type 2 muscle fibers Acetazolamide treatment: Often deleterious P1158S mutation Mutant channel: Disordered[neuromuscular.wustl.edu]

    Missing: Cold-Induced Muscle Cramps
  • Hyperkalemic Periodic Paralysis

    (hyperkalemic periodic paralysis [HYPP]) and temperature‐sensitive (paramyotonia congenita [PC]) forms.[scholars.northwestern.edu] Abstract Clinical and electrophysiological data have outlined a spectrum of similar yet distinct periodic paralyses, including potassium-sensitive (hyperkalemic periodic paralysis[ncbi.nlm.nih.gov] We have applied these polymorphisms to the investigation of hyperkalemic periodic paralysis and paramyotonia congenita, distinct neuromuscular disorders both of which are[ncbi.nlm.nih.gov]

    Missing: Cold-Induced Muscle Cramps
  • Muscle Cramp

    Limb muscle cramps lasting 2–3 minutes, induced by exertion and exposure to cold, were noted several times each week and she had recently experienced neck muscle cramps.[jnnp.bmj.com] Initially the cramps were induced by exertion and exposure to cold, but later occurred during rest and sometimes interfered with sleep.[jnnp.bmj.com] His 20 year old daughter (III-17) also had a more than 10 year history of muscle cramps during rest and sleep. Cramps were induced by stretching the affected muscles.[jnnp.bmj.com]

    Missing: Allelic Disorder to Hyperkalemic Periodic Paralysis
  • Hoyeraal-Hreidarsson Syndrome

    muscle cramps Acute demyelinating polyneuropathy Spontaneous pain sensation Shoulder pain Abnormal nervous system electrophysiology Myelin outfoldings Onion bulb formation[mendelian.co] Decreased number of peripheral myelinated nerve fibers Tetraparesis Progressive distal muscular atrophy Confusion Hypotelorism Paralysis Weight loss Respiratory insufficiency Cold-induced[mendelian.co]

    Missing: Allelic Disorder to Hyperkalemic Periodic Paralysis
  • Acute Cerebellar Ataxia

    […] dysfunction with exercise intolerance, cramps and acute painful rhabdomyolysis or myoglobinuria (with or without myalgia) induced by fever, fasting or prolonged exercise,[neuroweb.us] […] valproate therapy, cold exposure (carnitine palmitoyltransferase II (CPT II) deficiency or (3) both (LCAD, VLCAD, short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD), and[neuroweb.us] […] acyl-CoA dehydrogenase (LCAD, VLCAD), and trifunctional enzyme deficiencies) or (2) normal muscle strength between attacks with episodes of acute, recurrent, reversible muscle[neuroweb.us]

    Missing: Allelic Disorder to Hyperkalemic Periodic Paralysis
  • Alcoholic Cerebellar Degeneration

    […] dysfunction with exercise intolerance, cramps and acute painful rhabdomyolysis or myoglobinuria (with or without myalgia) induced by fever, fasting or prolonged exercise,[neuroweb.us] […] valproate therapy, cold exposure (carnitine palmitoyltransferase II (CPT II) deficiency or (3) both (LCAD, VLCAD, short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD), and[neuroweb.us] […] acyl-CoA dehydrogenase (LCAD, VLCAD), and trifunctional enzyme deficiencies) or (2) normal muscle strength between attacks with episodes of acute, recurrent, reversible muscle[neuroweb.us]

    Missing: Allelic Disorder to Hyperkalemic Periodic Paralysis
  • Glycogen Storage Disease due to Phosphoglycerate Mutase Deficiency

    Mutations in SCN4A can produce the clinical phenotypes of hyperkalemic and normokalemic periodic paralysis (hyperKPP), paramyoto-nia congenita, and potassium-aggravated myotonia[what-when-how.com] Patients with these allelic disorders demonstrate varying degrees of myotonia of eye closure, chewing, swallowing, and gripping of the hands.[what-when-how.com]

    Missing: Cold-Induced Muscle Cramps

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