Autosomal dominant spastic paraplegia type 42

Orpha code: 171863OMIM code: 612539

Definicja

A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.

Disease data
Klasyfikacja

Disease

Synonimy
SPG42
SPG42
Kod ORPHA
171863
Kod OMIM
612539
Kod ICD10
G11.4
Kod ICD11
8B44.00

No additional description.

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