Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the <i>SPG20</i> gene (13q13.1), which encodes the protein spartin. Disease data Classification Disease Synonyms Childhood-onset spastic paraparesis-distal muscle wasting syndrome Paraplegia spastyczna o początku w wieku dziecięcym - zanik mięsni dystalnych SPG20 Zespół Troyera SPG20 Troyer syndrome ORPHA code 101000 OMIM code 275900 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