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Contents
- 1 Early-Onset Dystonia
- 2 Dopa-Responsive Dystonia
- 3 Myoclonus-Dystonia
- 4 Paroxysmal Dyskinesia
- 5 Huntington Disease
- 6 Dominant Parkinson Disease
- 7 Recessive Parkinson Disease
- 8 Gaucher Disease and Parkinson Disease
- 9 Spinocerebellar Ataxia Type 2
- 10 Spinocerebellar Ataxia Type 17
- 11 Sialidosis
- 12 Friedreich Ataxia
- 13 Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) Syndrome
- 14 Myoclonus Epilepsy and Ragged Red Fiber (MERRF)
- 15 POLG-Related Mitochondrial Disease
- 16 Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Syndrome
- 17 Leber Hereditary Optic Neuropathy
- 18 Charcot-Marie-Tooth Disease Type 1
- 19 Hereditary Neuropathy with Liability to Pressure Palsies
- 20 Neurofibromatosis Type 1
- 21 The Myotonic Dystrophies
- 22 The Dystrophinopathies
- 23 Facioscapulohumeral Dystrophy
- 24 Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia
- 25 Hereditary Spastic Paraplegia
- 26 Inherited Prion Diseases
- 27 Frontotemporal Dementia—Amyotrophic Lateral Sclerosis Syndrome
- 28 Neurodegeneration with Brain Iron Accumulation
- 29 Coincidental Occurrence of Two Monogenic Disorders
- 30 Direct-to-Consumer Genetic Testing
- 31 Incidental Findings in Genetic Testing
