Table 2.
Classification of the diseases.
| Disease | Count | Disease | Count |
|---|---|---|---|
| Adult-Onset Cerebellar Ataxia Due To Cabc1/Adck3 Mutation | 1 | Limb-Girdle Muscular Dystrophy Type 2I | 73 |
| Adams Oliver Syndrome | 2 | Limb-Girdle Muscular Dystrophy Type 2K | 18 |
| Age-Related Macular Degeneration | 10 | Limb-Girdle Muscular Dystrophy Type 2L | 26 |
| Atypical Hemolytic-Uremic Syndrome | 2 | Lipid Storage Myopathy | 60 |
| Autosomal Dominant Motorneurone Disease | 2 | Marinesco-Sjögren Syndrome | 6 |
| Becker MD | 403 | MELAS Syndrome | 4 |
| Becker Muscular Dystrophy Female Carrier | 32 | MERRF Syndrome | 7 |
| Behr Syndrome | 1 | Minicore Myopathy With External Ophthalmoplegia | 15 |
| Benign Fasciculation Syndrome | 1 | Mitochondrial Complex I Deficiency | 2 |
| Brown-Vialetto-Van Laere Syndrome; Bvvls | 4 | Mitochondrial Complex II Deficiency | 1 |
| Bethlem Myopathy | 126 | Mitochondrial Complex III Deficiency | 3 |
| Central Core Disease | 46 | Mitochondrial Disorder | 31 |
| Carnitine Palmitoyltransferase II Deficiency, Infantile | 1 | Mitochondrial Myopathy | 9 |
| Centronuclear Myopathy | 3 | Morphea Sclerosis | 1 |
| Charcot-Marie-Tooth Ddisease (Not Specified) | 1 | Motor Predominant Axonal Peripheral Neuropathy | 1 |
| Charcot-Marie-Tooth Disease, X-Linked | 2 | Miyoshi Myopathy | 231 |
| Muscular Dystrophy, Congenital, 1C; MDC1C | 20 | Multi-Minicore Myopathy | 2 |
| Coenzyme Q10 Deficiency | 2 | Muscle Eye Brain Disease | 18 |
| Congenital Myopathy Due To SEPN1 Mutation | 9 | Multiple Acyl-Coa Dehydrogenase Deficiency | 4 |
| Congenital Myasthenic Syndromes | 366 | Muscular Dystrophy, Congenital Merosin-Deficient, 1A | 57 |
| Control | 289 | Myasthenia Gravis | 2 |
| Distal Myopathy | 1 | MYH7 Related Myopathy | 6 |
| DMD/BMD Intermediate | 39 | Myotubular Myopathy | 20 |
| DMD/BMD Intermediate Female Carrier | 4 | Myofibrillar Myopathy | 12 |
| Duchenne Muscular Dystrophy | 1899 | Myotonia Congenita | 2 |
| Diabetes-Deafness Syndrome, Maternally Transmitted | 3 | Myotonic Dystrophy Type 1 | 5116 |
| Duchenne Muscular Dystrophy Female Carrier | 140 | Myotonic Dystrophy, Unspecified | 4 |
| Episodic Ataxia Type 2 | 2 | Nemaline Myopathy | 16 |
| Emery-Dreifuss Muscular Dystrophy | 19 | Neuroferrinopathy | 122 |
| Enhanced S-Cone Syndrome | 1 | Neutral Lipid Storage Disease With Myopathy | 2 |
| Epilepsy | 1 | Non-Age Related Macular Degeneration | 1 |
| Facioscapulohumeral Muscular Dystrophy | 50 | Oculopharyngeal Muscular Dystrophy | 6 |
| Facioscapulohumeral Muscular Dystrophy Type 2 | 126 | Oculopharyngodistal Myopathy | 4 |
| Friedreich Ataxia | 28 | Optic Atrophy | 4 |
| Hereditary Sensory And Autonomic Type 1 | 54 | Optic Atrophy 1 | 20 |
| Hereditary Inclusion Body Myopathy | 1 | Pompe Disease (Glycogen Storage Disease) | 7 |
| Idiopathic Pulmonary Arterial Hypertension | 7 | Progressive External Ophthalmoplegia (Polg2) | 2 |
| Inclusion Body Myositis | 2 | Retinitis Pigmentosa | 12 |
| Inherited Peripheral Neuropathy CMT2 | 3 | Sjögren Syndrome | 2 |
| Inclusion Body Myopathy With Early-Onset Paget Kennedy Disease |
32 1 |
Scoliosis | 27 |
| Leber Hereditary Optic Neuropathy | 16 | Ryanodine Receptor 1 Related Myopathy | 8 |
| Leukoencephalopathy With Vanishing White Matter | 1 | Severe Early-Onset Axonal Neuropathy Due To MFN2 | 3 |
| Limb-Girdle Muscular Dystrophy (Not Specified) | 59 | Spinal Muscular Atrophy Type 1 | 9 |
| Limb-Girdle Muscular Dystrophy Type 1B | 8 | Spinal Muscular Atrophy Type 2 | 6 |
| Limb-Girdle Muscular Dystrophy Type 1C | 8 | Spinal Muscular Atrophy Type 3 | 7 |
| Limb-Girdle Muscular Dystrophy Type 2A | 59 | Spinal Muscular Atrophy, Unspecified | 6 |
| Limb-Girdle Muscular Dystrophy Type 2B | 1841 | Spinal Muscular Atrophy With Respiratory Distress | 1 |
| Limb-Girdle Muscular Dystrophy Type 2C | 10 | Titinopathy/Myofibrillar Myopathy | 8 |
| Limb-Girdle Muscular Dystrophy Type 2E | 2 | Ullrich Congenital Muscular Dystrophy | 19 |
| Limb-Girdle Muscular Dystrophy Type 2F | 1 | Wolfram Syndrome 1 | 8 |