This is a recently reported progressive neurological disease primarily affecting balance and walking.
Symptoms begin in late childhood or early teenage years with unsteadiness and mild difficulties walking. These symptoms are slowly progressive and, while many adults function well into their 40s, some become wheelchair-bound in the next decade or two. Fine hand movements are impaired and there may be a mild tremor. Reflexes are abnormally brisk and the sense of touch may be diminished. Vision is usually not impaired but eye movements are often jerky (nystagmus). There is no significant cognitive impairment.
This is an autosomal recessive condition whose expression requires the presence of two changed copies of a gene (mutations). Affected children inherit one mutated copy from each parent who is clinically normal. Each child in such a family has a risk of 25% of inheriting this spinocerebellar atrophy.
This condition can be diagnosed by a neurologist when evaluated for balance and mobility problems. Eye movement problems (nystagmus) may lead to referrals to an ophthalmologist. Because SCAR7 is only one of multiple disorders with similar signs and symptoms, a full clinical and imaging evaluation is usually done.
SCAR7’s impact on longevity is unknown and no effective treatment is available for the neurological condition. However, physical therapy and mobility devices could be helpful for tasks of daily living. Speech therapy might be helpful for the dysarthria.