What are musculoskeletal diseases ?

What are musculoskeletal diseases ?

Musculoskeletal diseases form a large, heterogeneous group of diseases characterised by progressive degeneration of the muscles and/or peripheral nerves that send signals to the muscles and/or skeletal system. These diseases affect all age groups (children, adolescents and adults) and there are more than 400 different rare neuromuscular diseases, which may be either genetic in origin (changes in the DNA) or linked to a dysfunction of the immune system. Depending on the degree of muscular damage, the consequences for the body can be quite serious in terms of orthopaedic, respiratory, cardiac and digestive disorders, etc.

MAMUTH includes other rare skeletal pathologies such as vertebral and medullar malformations, severe limb malformations and neonatal brachial plexus paralysis. These musculoskeletal dysfunctions have a profound impact on the autonomy, quality of life and life expectancy of affected patients. Most of these patients inevitably suffer long-term disability, which a considerable burden on patients, their families and the public health families and the public health system.

The most frequent diseases treated

The most frequent diseases treated:

  • Diseases affecting the muscle:
    • Muscular dystrophies (Duchenne/Becker disease, limb-girdle muscular dystrophies (LGMD))
    • Steinert’s myotonic dystrophy
    • Muscular dystrophies and congenital myopathies
  • Diseases affecting the motor neurons of the spinal cord (spinal muscular atrophy)
  • Diseases affecting the nerves (Charcot-Marie-Tooth disease)
  • Acquired or congenital diseases of the neuromuscular junction (myasthenia gravis, congenital myasthenia)
  • Vertebral malformations (Spina bifida and other dysraphisms, Scoliosis, etc.)
  • Limb malformations