Autosomal dominant spastic paraplegia type 42

Orpha code: 171863OMIM code: 612539

Definition

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
Classification

Disease

Synonyms
SPG42
SPG42
ORPHA code
171863
OMIM code
612539
ICD10 code
G11.4
ICD11 code
8B44.00

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl