Progressive autosomal recessive ataxia-deafness syndrome

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Progressive autosomal recessive ataxia-deafness syndrome

Synonyms: Lichtenstein-Knorr syndrome | Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome | SCAR19

A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia action tremor dysmetria dysdiadochokinesis dysarthria and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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