Preferred Label : Infantile onset spinocerebellar ataxia;
ICD-11 definition : Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder
with early and severe involvement of both the peripheral and central nervous systems.
IOSCA is characterized by very early ataxia, athetosis and reduced tendon reflexes
(between 9 and 18 months of age). Ophthalmoplegia and sensorineural hearing loss are
diagnosed in childhood. Other features, such as optic atrophy and sensory neuropathy
with progressive loss of myelinated fibers in the sural nerve, appear later in the
disease course. Hypogonadism may occur in females. Some patients show intellectual
deficit. Epilepsy is a late manifestation and seizures may be life-threatening.;
ICD-11 synonym : IOSCA - [infantile onset spinocerebellar ataxia]; Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis; Ohaha - [Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis] syndrome; Ohaha syndrome;
ICD-11 acronym : IOSCA; OHAHA;
Origin ID : 1262541689;
UMLS CUI : C1849096;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder
with early and severe involvement of both the peripheral and central nervous systems.
IOSCA is characterized by very early ataxia, athetosis and reduced tendon reflexes
(between 9 and 18 months of age). Ophthalmoplegia and sensorineural hearing loss are
diagnosed in childhood. Other features, such as optic atrophy and sensory neuropathy
with progressive loss of myelinated fibers in the sural nerve, appear later in the
disease course. Hypogonadism may occur in females. Some patients show intellectual
deficit. Epilepsy is a late manifestation and seizures may be life-threatening.
