Updated Frequently Asked Questions (FAQs) from Adult Neurology Services

1. Muscular Dystrophies

• Becker muscular dystrophy
• Duchenne muscular dystrophy
• Manifesting carrier of Duchenne
• Congenital muscular dystrophy
•     •  General
•     •  MDC1A (merosin-deficient congenital muscular dystrophy)
•     •  Rigid spine syndrome (RSS)
•     •  Ullrich congenital muscular dystrophies
•     •  Bethlem myopathy
• Emery-Dreifuss muscular dystrophy
• Facioscapulohumeral muscular dystrophy
• Limb-girdle types of muscular dystrophy (LGMD)
•     •  General
•     •  LGMD 1B (also known as Laminopathy)
•     •  LGMD 1C (also known as Caveolinopathy)
•     •  LGMD 2A (also known as Calpainopathy)
•     •  LGMD 2B (also known as Dysferlinopathy)
•     •  LGMD 2I
• Ocular myopathies including ocularopharangeal muscular dystrophy

2. Myotonic Disorders

• Congenital Myotonic Dystrophy
• Myotonia
• Myotonic Dystrophy

3. Congenital Myopathies

• Central Core Myopathy
• Congenital Fibre-type Disproportion Myopathy
• Minicore (Multicore) myopathy
• Myotubular or Centronuclear myopathy
• Nemaline myopathy

4. Mitochondrial Myopathies

• Mitochondrial Myopathies

5. Metabolic Disorders

• Metabolic disorders (general)
• McArdle’s Disease
• Pompe’s Disease

6. Periodic Paralyses

• Periodic Paralyses

7. Autoimmune Myositis

• Polymyositis, Dermatomyositis and Sarcoid myopathy
• Juvenile dermatomyositis
• Inclusion body myositis

8. Spinal Muscular Atrophies

• Severe (Type I)
• Intermediate (Type II)
• Mild (Type III)
• Adult spinal muscular atrophy

9. Hereditary Motor and Sensory Neuropathies

• (Also known as Charcot-Marie-Tooth or Peroneal muscular atrophy)

10. Disorders of the Neuromuscular Junction

• Congenital myasthenic syndromes
• Myasthenia Gravis

11. Friedreich’s Ataxia

• Friedreich’s Ataxia

12. Other (Please Specify)

13. Unspecified