Orphanet: Autosomal recessive intermediate Charcot Marie Tooth disease type B

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Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

Disease definition

An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.

ORPHA:254334

Classification level: Disorder

Synonym(s):
- RI-CMT type B
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: G60.0
OMIM: 613641
UMLS: -
MeSH: -
GARD: 12454
MedDRA: -

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Svenska (2015)

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Deutsch (2015)
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Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

ORPHA:254334

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