Hereditary sensorimotor neuropathy with hyperelastic skin

Orpha code: 280598OMIM code: 608895

Definition

Hereditary sensorimotor neuropathy with hyperelastic skin is a rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (e.g. pectus excavatum, dolichocephaly) may also be associated.

Disease data
Classification

Disease

ORPHA code
280598
OMIM code
608895
ICD10 code
G60.0
ICD11 code
-

No additional description.

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