It is a case where life played a big trick on two brothers who suffer from the same disease Myopathy Central Core This pathology has no cure but has treatments that help to live with less suffering and more dignity
“The term“ Neuromuscular Diseases ”applies to a very wide universe of different pathologies, already identified, and includes diseases of the muscles (Myopathies), diseases of the nerves (Neuropathies) diseases of the anterior horns of the spinal cord (Spinal Atrophy) and disorders of the neuromuscular junction (Myasthenia), among others.
They are genetic, hereditary and progressive diseases and they all have in common the lack of muscular strength, requiring the patients, to whom they were diagnosed, with support and / or technical aids - electric wheelchairs or walking frames for their mobility, computers for writing , head restraints, various handling aids, adapted transport vehicles, etc.
The pulmonary muscles and the heart are often affected, causing breathing and cardiac difficulties. Muscle weakness also affects the muscles of the spine, giving rise to inevitable scoliosis that will further worsen breathing difficulties. In these cases, a corrective surgical intervention is necessary, which substantially improves the quality of life of patients. At the level of the extremities, tendinous deformations and retractions appear which increase the difficulties in movements. Despite all muscle weakness and joint deformities, neuromuscular patients maintain, for the most part, a normal intellectual level.
These diseases do not have a cure yet. However, the various problems that affect patients can be mitigated with the support of multidisciplinary teams that include neuropediatricians, neurologists, physiatrists, orthopedists, psychologists, cardiologists and specialists in respiratory functions that are being created in the various hospital centers and working in common. .
Examples of Neuromuscular Diseases *:
Waist Dystrophy (includes sarcoglycanopathies, calpainopathies, dysferlinopathies, among others)
Facio – Scapular – Umeral Dystrophy (FSH)
Primary deficit of Merosine
Muscle – oculo-cerebral syndrome
Rigid spine syndrome
Myopathy with inclusion bodies