/mitochondrial DNA depletion syndrome 7 (hepatocerebral type)

mitochondrial DNA depletion syndrome 7 (hepatocerebral type)

Rare Disease

MONDO:0010060

Also Known As

IOSCAOHAHA syndromeOhaha syndromeTWNK autosomal recessive degenerative and progressive cerebellar ataxiaautosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNKinfantile onset spinocerebellar ataxiamitochondrial DNA depletion syndrome 7 (hepatocerebral type)mitochondrial DNA depletion syndrome type 7ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndromeMTDPS7SCA8 (formerly)mitochondrial DNA depletion syndrome 7ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosisophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosisophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosisspinocerebellar ataxia 8spinocerebellar ataxia 8 (formerly)spinocerebellar ataxia 8, formerlyspinocerebellar ataxia infantile with sensory neuropathyspinocerebellar ataxia, infantile, with sensory neuropathyspinocerebellar ataxia, infantile-onset

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.