- Huntington’s disease
- Duchenne muscular dystrophy
- Myotonic dystrophy
- Hereditary amyotrophic lateral sclerosis
- Hereditary cerebellar ataxia
- Rett syndrome
- Friedreich’s ataxia
- Charcot-Marie-Tooth disease
- Wilson’s disease
- Hereditary Parkinson’s disease
- Hereditary early-onset Alzheimer’s disease
- Lysosomal storage disorders such as Gaucher disease and Niemann-Pick disease
- Tuberous sclerosis
- Rare hereditary multiple sclerosis
- Hereditary epilepsy syndromes
