**2. Epidemiology, diagnosis and clinical management of muscular dystrophies**

Muscular dystrophy was described for the first time in 1860s by the neurologist Guillaume-Benjamin-Amand Duchenne (de Boulogne). This followed a study of 13 boys who were affected by the most common type of muscular dystrophy, now carrying his name. Worldwide, Duchenne muscular dystrophy (DMD) affects 1/3,500 born males. Other isoforms of muscular dystrophies include Becker muscular dystrophy (less severe than DMD, with an incidence 3-6: 100,000 male births), limb-girdle muscular dystrophy (mainly affecting hip and shoulder muscles, occurring between 10 and 30 years of age, with an estimated range of incidence between 0.5-4:100,000), congenital muscular dystrophy (present at birth and not affecting the life span, incidence 1:21,500), facioscapulohumeral muscular dystrophy (inherited form of muscular dystrophy, initially affecting skeletal muscles of the face, scapula and upper arms, starting from teenage years. Incidence 4-12:100,000), myotonic dystrophy (an inherited form of muscular dystrophy, normally occurring in patients of any age. European incidence: 3-15:100,000) and finally, oculopharyngeal muscular dystrophy (a type of muscular dystrophy occurring in the middle age and, at the beginning, causes drooping of eyelids, dysphagia and weakness of the extraocular muscles. This muscular dystrophy has been frequently observed in French Canadian patients, with a prevalence 1:1000). Distal muscular dystrophy is charac‐ terized by the onset observed in hands, feet lower arms or lower legs. Its incidence is unknown. Emery–Dreifuss muscular dystrophy affects muscles of the upper arms and lower legs. It causes multiple contractures, as well as heart problems (incidence: 1 for every 100,000).

Muscular dystrophies are typically diagnosed by physical exams, family medical history and tests. These may include muscle biopsies for the histological detection of dystrophin expression and electromyography tests to analyse the electrical activity of muscles at rest and during contraction. Furthermore, nerve conduction tests are conducted to detect possible injuries within the peripheral nervous system and genetic tests - mainly DNA analysis - reveal the presence of different mutated isoforms of dystrophin. Moreover, blood enzyme tests are carried out to detect the presence of creatine kinase, a known marker of fibre muscle damage.

Within the group of muscular diseases affecting the musculoskeletal system, muscular dystrophies represents a serious problem for human health, especially for its clinical manage‐ ment. Muscular dystrophies are characterized by a progressive weakness due to unrestrainable muscle degeneration. Since there are currently no real cures, occupational therapy represents the main tool adopted to ameliorate the patient's quality of life. This therapeutic line aims to assist dystrophic patients with MDs through the engagement of daily activities such as selfcare, self-feeding and physical training. Specific instruments have been developed to help patients in their route along the disease including scooters/wheelchairs and some computer interface devices. Occupation therapy also aims to make changes in both the patient's occu‐ pational and home environments so as to improve the functionality of the inhabited places. Furthermore, physiological support for patients and relatives is also provided by occupational therapists. The totality of the therapeutic strategies, chosen at an individual level, represents a standard way for the clinical management of MDs in developed countries. Nevertheless, in low-income countries, socioeconomic reasons prevent the adoption of this course. Compared to the rest of the world, this causes a severe worsening of the patient's quality of life.
