What is muscular dystrophy?
Muscular dystrophy is the name used to refer to diseases that affect the neuromuscular system and weaken muscles to the point of disability.
Among the most important dystrophies are the following:
- Becker
- Cingoli
- Duchenne
- Emery-Dreifuss muscular dystrophy
- Myotonic muscular dystrophy
- Distal muscular dystrophy
- Faciosoltero-humeral muscular dystrophy
Symptoms of muscular dystrophy
Early symptoms of dystrophy include:
- Difficulty performing simple daily movements, such as climbing stairs
- Fatigue after simple movements
- Abnormal gait, pushing the abdomen forward
- Scoliosis and lordosis with consequent repercussions on breathing.
In the advanced stage of the disease, the respiratory tract and heart are also affected. Although there are peculiarities that distinguish one type of dystrophy from another, for the most part, they all have a symmetry in the loss of muscle function.
Diagnosis of muscular dystrophy
After identifying the symptoms that may lead to muscular dystrophy, the specialist will perform a blood test to check the values of creatine phosphokinase, an endocellular enzyme, whose abnormal values point to an alteration in the muscle fibers, which may be a precursor of dystrophy. The collection of muscle tissues (biopsy) is equally essential to analyze the levels of dystrophin, the protein that gradually stops being synthesized in patients with the disease.
What are the causes of muscular dystrophy?
The root causes of the dystrophies are identified in the genetic mutation of the DNA tracts responsible for the muscular system. In the presence of anomalies, the muscle fibers produced by the DNA do not develop correctly, creating motor difficulties.
Can it be prevented?
Unfortunately, to date it is not possible to prevent this pathology, as the origin is hereditary or occurs during the embryonic development phase.
Muscular dystrophy treatments
Although, to date, no definitive cure has been found for muscular dystrophy, there are therapies to reduce symptoms and improve the quality of life of those affected. In the early stage of the disease, anti-inflammatory steroid therapy helps to reduce fatigue, increase motor activity and eliminate respiratory disorders.
In the early stages when cardiac disorders occur, the specialist may resort to the use of ACE (angiotensin-converting enzyme) inhibitors to reduce their symptoms, but it is necessary to carefully evaluate their use, as they could complicate a heart transplant.
At a later stage, when respiratory function is compromised, non-invasive mechanical ventilation technique is used, while for more complex cases, tracheotomy is used.
Which specialist to contact?
The specialist to trust in the process of diagnosing muscular dystrophy is the neurologist, who will carry out all the tests aimed at confirming or not the pathology and prescribe the best possible treatment.