Our multi-disciplinary team of experts specializes in a wide range of neuromuscular disorders, including:

Muscular Dystrophies

• Duchenne muscular dystrophy
• Becker muscular dystrophy
• Myotonic dystrophy
• Congenital muscular dystrophies:
  • Ullrich congenital muscular dystrophy
  • Bethlem congenital muscular dystrophy
  • Fukuyama congenital muscular dystrophy
  • Rigid spine syndromes
• FSHD (Facioscapulohumeral muscular dystrophy)
• Limb-girdle muscular dystrophy
  
  

Motor Neuron Disease

• Spinal muscular atrophy
  
  

Ion Channel Diseases

• Hyperkalemic periodic paralysis
• Hypokalemic periodic paralysis
• Myotonia congenita
  • Becker myotonia
  • Thomsen myotonia

Mitochondrial Diseases

• Fredreich’s ataxia
  
  

Myopathies

• Congenital myopathies
• Distal myopathies
• Endocrine myopathies
• Inflammatory myopathies
• Metabolic myopathies
• Myofibrillar myopathies
• Mitochondrial DNA depletion syndrome (Mitochondrial myopathies)
  
  

Neuromuscular Junction Diseases

• Congenital myasthenic syndromes
• Lambert-Eaton myasthenic syndrome
• Myasthenia gravis
  
  

Peripheral Nerve Disease

• Chronic inflammatory demyelinating polyneuropathy
• Charcot-Marie-Tooth disease