Charcot-Marie-Tooth Disease, Type 4A

Alternative Names

  • CMT4A
  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4A
  • Charcot-Marie-Tooth Neuropathy, Type 4A
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WHO-ICD-10 version:2010

Diseases of the nervous system

Polyneuropathies and other disorders of the peripheral nervous system

OMIM Number

214400

Mode of Inheritance

Autosomal recessive

Gene Map Locus

8q21.11

Description

Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that affects the peripheral nervous system characterised by progressive muscle atrophy and loss of sensation in different parts of the body. Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of the most frequent and severe form of the disease - Charcot-Marie-Tooth disease type 4 (CMT4). CMT4A is caused by variations in GDAP1 gene that may affect proper functioning of peripheral nerves.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
214400.1LebanonFemaleNoYes Gait ataxia; Upper limb muscle weaknes...NM_018972.4:c.668T>AHomozygousAutosomal, RecessiveDe Sandre-Giovannoli et al. 2003 'LIB284-IV.2' in the...
214400.2.1AlgeriaMaleNoYes Difficulty walking; Progressive distal...NM_018972.4:c.485-2A>GHomozygousAutosomal, RecessiveDe Sandre-Giovannoli et al. 2003 'ALG384-II.1' in the...
214400.2.2AlgeriaFemaleNoYes Difficulty walking; Progressive distal...NM_018972.4:c.485-2A>GHomozygousAutosomal, RecessiveDe Sandre-Giovannoli et al. 2003 'ALG384-II.2' in the...
214400.3.1MoroccoFemaleYesYes Infantile muscular hypotonia; Areflexia...NM_018972.4:c.581C>GHomozygousAutosomal, RecessiveBirouk et al. 2003
214400.3.8MoroccoFemaleYesYes Functional motor deficit; Distal amyotr...NM_018972.4:c.581C>GHomozygousAutosomal, RecessiveBirouk et al. 2003 First cousin of 2144...
214400.3.9MoroccoFemaleYesYes Functional motor deficit; Distal amyotr...NM_018972.4:c.581C>GHomozygousAutosomal, RecessiveBirouk et al. 2003 First cousin of 2144...
214400.3.10MoroccoFemaleYesYes Functional motor deficit; Distal amyotr...NM_018972.4:c.581C>GHomozygousAutosomal, RecessiveBirouk et al. 2003 First cousin of 2144...
214400.GLebanonUnknownYesNM_018972.4:c.668T>AHomozygousAutosomal, RecessiveDe Sandre-Giovannoli et al. 2003; Megarbane et al. 2022 5 patients from 4 fa...
214400.G.1.1TunisiaUnknownYes Distal lower limb amyotrophy; Distal up...NM_018972.2:c.92G>AHomozygousAutosomal, RecessiveBaxter et al. 2002 Unknown number of pa...
214400.G.1.2TunisiaUnknownYes Distal lower limb amyotrophy; Distal u...NM_018972.4:c.581C>GHomozygousAutosomal, RecessiveBaxter et al. 2002 Unknown number of pa...
214400.G.1.3TunisiaUnknownYes Distal lower limb amyotrophy; Distal ...NM_018972.2:c.482G>AHomozygousAutosomal, RecessiveBaxter et al. 2002 Unknown number of pa...
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