Medical Genetics Clinical syndrome CNS Myoclonus(60%0) Epilepsy (45%) Cerebellar dysfunction Ataxia Dementia Optic atrophy(20%0) Polyneuropathy(20%) Distal sensory loss (large fiber modalities) Hearing loss(40%0) Myopathy Short stature(10%0 Lipomata(10%0)Medical Genetics Clinical syndrome: • CNS – Myoclonus (60%) – Epilepsy (45%) – Cerebellar dysfunction: Ataxia – Dementia – Optic atrophy (20%) • Polyneuropathy (20%) – Distal sensory loss (large fiber modalities) • Hearing loss (40%) • Myopathy • Short stature (10%) • Lipomata (10%)