Dec 06, 2022

Early in life, the participant met most developmental milestones, although he began walking at 18 months. Most of his symptoms did not appear until age 35 when he started to experience memory loss, dizziness, and slurred speech (dysarthria).

A few years later, the participant began to have balance difficulties (ataxia), which resulted in some falls. A neurological evaluation later confirmed these observations. Within a 4-year time period, the participant and his family noticed his symptoms rapidly progressing.

• Cognitive problems (dizziness, memory loss)
• Slurred speech (dysarthria)
• Problems with coordination (ataxia)
• Dizziness (vertigo)
• Brain abnormalities (moderate cerebellar and mild cortical atrophy)
• Balancing difficulties

• Check weight monthly
• Check liver function
• Consult with neurologist for therapeutic options
• Modify home environment to reduce fall risk
• Monitor for choking
• Speech therapy

• Ataxia telangiectasia
• Autosomal recessive storage disease
• Episodic ataxia
• Hereditary ataxia syndromes
• Hereditary neuropathies
• Hereditary spastic paraplegia
• Mitochondrial disease
• Slow virus