Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the <i>VPS37A</i> gene (8p22) encoding vacuolar protein sorting-associated protein 37A. Disease data Classification Disease Synonyms SPG53 SPG53 ORPHA code 319199 OMIM code 614898 ICD10 code G11.4 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl