Аутосомно-рецесивна атаксія, зумовлена дефіцитом PEX16

Визначення(English summary)

A rare genetic, peroxisomal disease characterized by chilhood onset progressive spastic paraparesis and ataxia due to PEX 16 deficieny. Additional clinical features include demyelinating and peripheral neuropathies, progressive unsteady gait and limb tremor, dystonia, marked lower limb spasticity, upper limb ataxia, involuntary facial movements, speech disturbance (including cerebellar dysarthria) and cataract. All patients need wheelchair in different periods of their lives depending on the severity of their condition. Cognitive functions are mostly preserved (slow deterioration over time were observed in few cases).