spastic paraplegia type-20 (Troyer syndrome)

Genetics

• autosomal recessive
• associated with defects in spartin gene

Clinical manifestations

• see hereditary spastic paraplegia
• dysarthria
• distal amyotrophy
• mild developmental delay
• short stature

More general terms

• hereditary spastic paraplegia (familial spastic paralysis)

Database

• OMIM: https://mirror.omim.org/entry/602783