Conditions / Genetic
familial isolated deficiency of vitamin E
info · Genetic
A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12
A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12.
Signs and symptoms
- Clumsiness
- Dysmetria
- Dystonia
- Gait disturbance
- Delayed somatosensory central conduction time
- Cerebellar atrophy
- Perseverative thought
- Dysarthria
- Ataxia
- Dysdiadochokinesis
Also known as: ataxia with isolated vitamin E deficiency; familial isolated vitamin E deficiency