Orphanet: Autosomal recessive axonal Charcot Marie Tooth disease due to copper metabolism defect

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Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect

Disease definition

A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting, and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described.

ORPHA:521411

Classification level: Disorder

Synonym(s):
- Autosomal recessive axonal CMT due to copper metabolism defect
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Adolescent
ICD-10: G60.0
OMIM: -
UMLS: C5569051
MeSH: -
GARD: -
MedDRA: -

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Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect

ORPHA:521411

A summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)

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