Autosomal spastic paraplegia type 72

Orpha code: 401849OMIM code: 615625

Definicja

Autosomal spastic paraplegia type 72 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.

Disease data
Klasyfikacja

Disease

Synonimy
SPG72
SPG72
Kod ORPHA
401849
Kod OMIM
615625
Kod ICD10
G11.4
Kod ICD11
-

No additional description.

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