Experienced in providing advanced levels of care for a broad range of neuromuscular disorders, we treat the following conditions

Muscular dystrophies

Muscular dystrophies are a group of genetic diseases affecting children that cause progressive weakness and loss of muscle mass.

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

In children, spinal muscular atrophy is an inherited motor neuron disease that affects the spine and brain. 

  • Spinal muscular atrophy
Ion channel diseases

Several diseases are associated with a disturbed function in ion channels that leads to weakness and seizures.

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

Numerous diseases affect the muscles that control voluntary movement in the body. These disorders are characterized by muscle weakness, motor delay, respiratory impairment and bulbar muscle dysfunction.

  • Pompe disease
  • Congenital myopathies
  • Distal myopathies
  • Endocrine myopathies
  • Inflammatory myopathies
  • Metabolic myopathies
  • Myofibrillar myopathies
  • Mitochondrial DNA depletion syndrome (Mitochondrial myopathies)
Neuromuscular junction diseases

These disorders decrease nerve cell activity among the motor and sensory nerves that connect the brain and spinal cord to the rest of the body.

  • Congenital myasthenic syndromes
  • Myasthenia gravis
Peripheral nerve disease

These diseases, also known as peripheral neuropathy, occur when there is damage to the nervous system. Symptoms can range from tingling and numbness to burning pain or paralysis.

  • Guillain-Barré Syndrome
  • Chronic inflammatory demyelinating polyneuropathy
  • Charcot-Marie-Tooth disease