Conditions / Genetic
autosomal recessive spinocerebellar ataxia 19
info · Genetic
An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36.
Signs and symptoms
- Dysmetria
- Delayed ability to walk
- Gait ataxia
- Ataxia
- Dysdiadochokinesis
- Motor delay
- Limb ataxia
- Areflexia of upper limbs
- Sensorineural hearing impairment
- Vestibular hyporeflexia
Also known as: Lichtenstein-Knorr syndrome; SCAR19