Table 2 Neuromuscular disease diagnosis
Diagnosis | Patients (94 cases) |
|---|---|
MOTONEURON DISEASES | 12 |
Spinal Muscular Atrophy | 10 |
Type 2 | 5 |
Type 3 | 5 |
Amyotrophic Lateral Sclerosis | 1 |
Other Motoneuron Diseases | 1 |
PERIPHERAL NEUROPATHIES | 8 |
Hereditary Sensory and Motor Neuropathy | 2 |
Chronic Inflammatory Demyelinating Polyneuropathy | 4 |
Other Peripheral Neuropathies | 2 |
DISORDERS OF NEUROMUSCULAR JUNCTION | 20 |
Myasthenia Gravis | 20 |
MYOPATHIES | 50 |
Progressive Muscular Dystrophy | |
Limb-Girdle Muscular Dystrophy | 6 |
Facio-Scapulo-Humeral Muscular Dystrophy | 8 |
Myotonic Dystrophy | 5 |
Type 1 | 3 |
Type 2 | 2 |
Myotonia Congenita | 3 |
Central Core Myopathy | 1 |
Metabolic Myopathy | |
Mitochondrial Encephalomyopathy | 2 |
Glycogen Storage Disease | 2 |
Others Metabolic Myopathies | 1 |
Unspecified Myopathies | 22 |
STILL UNDIAGNOSED NEUROMUSCULAR DISEASE | 4 |