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.