What is it?
They include a large group of muscle diseases characterized by muscle weakness, most commonly affecting the muscles of the pelvic girdle and shoulder girdle. Those affected show difficulty raising their arms, lifting weights, climbing stairs, getting off the ground, running. The clinical course is extremely variable, with severe forms with early onset and rapid progression, and other milder ones that do not significantly compromise the life expectancy and motor autonomy of the affected individuals. Generally, the infantile forms have a more rapid progression. Symptoms are common in the different subtypes: the genetic cause differentiates the various diseases.
Among muscular dystrophies, the most common are:
- Duchenne and Becker muscular dystrophy
- Emery Dreifuss muscular dystrophy
- muscular dystrophies of the joints
- facioscapulohumeral muscular dystrophy
- distal muscular dystrophy
Which are the symptoms?
Muscular dystrophies can be transmitted either autosomal dominantly (usually one of the affected parents transmits the disease to 50% of children) or recessively (both parents must be unaffected carriers of the disease gene for 25% of children to be sick), or with an X-linked modality (Duchenne, Becker, Emery Dreifuss). In the latter case, symptoms usually only appear in males (who have only one X chromosome), while females, with a few exceptions, are healthy carriers (because they have another X chromosome in addition to the mutated one, which thus can compensate for its function).
How is it diagnosed?
The diagnosis is made on the basis of clinical observation and can be confirmed by instrumental tests (electromyography, magnetic resonance imaging), dosage of the enzyme creatine phosphokinase (higher in case of illness), muscle biopsy and, finally, genetic analysis. In cases where the mutation causing the disease is known, antenatal diagnosis can be performed.
How is it treated?
There is no definitive therapy. However, patients' quality of life can be improved with adequate physical therapy and possibly orthopedic surgery.
Where do we treat it?
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