Diseases of the nervous system
Systemic atrophies primarily affecting the central nervous system
20p13
Spinocerebellar ataxia-35 is an autosomal dominant adult-onset neurologic disorder characterized by difficulty walking due to cerebellar ataxia. The age at onset ranges from teenage years to late adulthood, and the disorder is slowly progressive. Additional features may include hand tremor, dysarthria, hyperreflexia, and saccadic eye movements. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613908.1 | Lebanon | Unknown | Yes | Muscle weakness Muscle weakness  | NM_198994.3:c.1024C>T | Homozygous | Autosomal, Dominant | Jalkh et al. 2019 |