Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
Definition
Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.
Also known as autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK, IOSCA, mitochondrial DNA depletion syndrome 7 (hepatocerebral type), mitochondrial DNA depletion syndrome type 7, OHAHA syndrome, ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome, TWNK autosomal recessive degenerative and progressive cerebellar ataxia — per MONDO