Search for a rare disease
Other search option(s)
Spinocerebellar ataxia type 29
Disease definition
Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.
ORPHA:208513
Classification level: DisorderSummary
Epidemiology
The prevalence is unknown. More than 50 cases have been reported in the literature to date.
Clinical description
SCA29 presents at birth, or shortly after, with manifestations including very slowly progressive or non-progressive gait and limb ataxia causing delayed walking and frequent falling in children. Mild developmental delay, learning difficulties, and language dysfunction are frequently reported. Other manifestations include nystagmus, dysarthria, dysmetria, and dysdiadochokinesia. Affected patients occasionally present with intention tremor, dystonia, and migraine headaches. Although the disease course is not well established, it appears to range from non-progressive or very slowly progressive ataxia (that does not affect ambulation) to progressively disabling ataxia. A slight improvement in cerebellar signs has been reported in some cases over time.
Etiology
SCA29 is due to mutations in the ITPR1 gene (3p26.1), which is equally the causal gene of SCA15 (see this term).
Genetic counseling
SCA29 is inherited autosomal dominantly and genetic counseling is possible.
Detailed information
Article for general public
Professionals
- Clinical genetics review
- English (2019)
Additional information