Charcot-Marie-Tooth Disease, Type 4H

Alternative Names

  • CMT4H
  • Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4H
  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4H
  • Charcot-Marie-Tooth Neuropathy, Type 4H
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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

609311

Mode of Inheritance

Autosomal recessive

Gene Map Locus

12p11.21

Description

Charcot-Marie-Tooth disease type 4 (CMT4) is a group of progressive neurological disorders resulting in demyelination of the motor and sensory axons. Myelin is the substance that covers nerve cells and provides protection for these cells. Also, myelin promotes the rapid transmission of nerve impulses. Patients with CMT4 have distal muscle weakness and atrophy associated with sensory loss and, frequently, pes cavus foot deformity. CMT4H is a sub type of CMT4 that is caused by mutations in the FGD4 gene. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
609311.1.1AlgeriaMaleNoYesNM_139241.3:c.1325G>AHomozygousAutosomal, RecessiveBaudot et al, 2012
609311.2.1LebanonFemaleNoYes Distal muscle weakness; Distal amyotrop...NM_139241.3:c.1698G>AHomozygousAutosomal, RecessiveBaudot et al, 2012 The patient was able...
609311.3.1LebanonMaleYesYes Demyelinating peripheral neuropathy; Sco...NM_001304480.1:c.1229T>GHomozygousAutosomal, RecessiveDe Sandre-Giovannoli et al. 2005; Delague et al. 2007
609311.3.2LebanonMaleYesYes Demyelinating peripheral neuropathy; Sco...NM_001304480.1:c.1229T>GHomozygousAutosomal, RecessiveDe Sandre-Giovannoli et al. 2005; Delague et al. 2007 Sibling of 609311.3....
609311.3.3LebanonMaleYesYes Demyelinating peripheral neuropathy; Sco...NM_001304480.1:c.1229T>GHomozygousAutosomal, RecessiveDe Sandre-Giovannoli et al. 2005; Delague et al. 2007 First cousin once re...
609311.3.4LebanonFemaleYesYes Demyelinating peripheral neuropathy; Sco...NM_001304480.1:c.1229T>GHomozygousAutosomal, RecessiveDe Sandre-Giovannoli et al. 2005; Delague et al. 2007 Sibling of 609311.3....
609311.3.5LebanonMaleYesYes Demyelinating peripheral neuropathy; Uns...NM_001304480.1:c.1229T>GHomozygousAutosomal, RecessiveDe Sandre-Giovannoli et al. 2005; Delague et al. 2007 First cousin of 6093...
609311.3.6LebanonMaleYesYes Demyelinating peripheral neuropathy; Sco...NM_001304480.1:c.1229T>GHomozygousAutosomal, RecessiveDe Sandre-Giovannoli et al. 2005; Delague et al. 2007 First cousin once re...
609311.3.7LebanonMaleYesYes Demyelinating peripheral neuropathy; Sco...NM_001304480.1:c.1229T>GHomozygousAutosomal, RecessiveDe Sandre-Giovannoli et al. 2005; Delague et al. 2007 Sibling of 609311.3....
609311.3.8LebanonMaleYesYes Demyelinating peripheral neuropathy; Sco...NM_001304480.1:c.1229T>GHomozygousAutosomal, RecessiveDe Sandre-Giovannoli et al. 2005; Delague et al. 2007 Sibling of 609311.3....
609311.4.1AlgeriaMaleYesYes Demyelinating peripheral neuropathy; Dis...NM_001304480.1:c.1229T>GHomozygousAutosomal, RecessiveDe Sandre-Giovannoli et al. 2005; Delague et al. 2007
609311.4.2AlgeriaMaleYesYes Demyelinating peripheral neuropathy; Dis...NM_001304480.1:c.1229T>GHomozygousAutosomal, RecessiveDe Sandre-Giovannoli et al. 2005; Delague et al. 2007 Sibling of 609311.4....
609311.4.3AlgeriaMaleYesYes Demyelinating peripheral neuropathy; Dis...NM_001304480.1:c.1229T>GHomozygousAutosomal, RecessiveDe Sandre-Giovannoli et al. 2005; Delague et al. 2007 Sibling of 609311.4....
609311.4.4AlgeriaMaleYesYes Demyelinating peripheral neuropathy; Dis...NM_001304480.1:c.1229T>GHomozygousAutosomal, RecessiveDe Sandre-Giovannoli et al. 2005; Delague et al. 2007 Sibling of 609311.4....
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