Orphanet: Charcot Marie Tooth disease type 4D
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Charcot-Marie-Tooth disease type 4D

Disease definition

Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.

ORPHA:99950

Classification level: Disorder
  • Synonym(s):
    • CMT4D
    • HMSN, Lom type
    • HMSN-Lom
    • Hereditary motor and sensory neuropathy, Lom type
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent
  • ICD-10: G60.0
  • OMIM: 601455
  • UMLS: C1832334
  • MeSH: C535716
  • GARD: 3973
  • MedDRA: -

  A summary on this disease is available in Español (2017) Français (2017) Italiano (2017) Nederlands (2017) Deutsch (2014) Slovak (2004, pdf) Polski (2014, pdf) Russian (2014, pdf)

Detailed information

General public

Guidelines

Disease review articles

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.