Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

Orpha code: 324611OMIM code:

Definition

A rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.

Disease data
Classification

Disease

Synonyms
CMT2 due to KIF5A mutation
CMT z powodu mutacji KIF5A
ORPHA code
324611
OMIM code
-
ICD10 code
G60.0
ICD11 code
-

No additional description.

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