Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare autosomal recessive complex spastic paraplegia characterized by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy. Disease data Classification Disease Synonyms SPG39 Paraplegia spastyczna z powodu mutacji NTE Spastyczna paraplegia z powodu mutacji neuropatycznej esterazy SPG39 Spastic paraplegia due to NTE mutation Spastic paraplegia due to neuropathy target esterase mutation ORPHA code 139480 OMIM code 612020 ICD10 code G11.4 ICD11 code 8B44.01 *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