According to the Union Européenne des Médecines Spécialistes (UEMS), Section of Physical and Rehabilitation Medicine, rehabilitation is the medical specialty concerning with the promotion of physical and cognitive functioning, activities, participation and modifying personal and environmental factors (1). This definition is in accordance with the International Classification of Functioning, Disability and Health published in 2002 by the World Health Organization (2). Rehabilitation activities require a holistic approach through the preparation of an individual rehabilitation project and its implementation by one or more rehabilitative programs containing the immediate and intermediate objectives and the final functional outcome. To settle the individual rehabilitation project it is first important to define the functional limitations and social participation restrictions of the patient using specific assessment scales. The comprehensive assessment of the person affected by a metabolic myopathy should include the evaluation of the following items: a. trunk and upper and lower limbs ROM (Range of Motion); b. upper and lower limbs strength with the MMT (Manual Muscle Testing); c. pain with several scales such as VAS (Visual Analogic Scale), Pediatric Pain Objective scale, and BPI (Brief Pain Inventory) (3) global functioning with the Six Minute Walk (4) and the Gross Motor Function Measure (GMFM) (5) disability with the Pediatric Evaluation of Disability Index (PEDI), (6) the Pompe PEDI,(7) the Functional Independent Measure (FIM), (8) the WeeFIM, (9) the Barthel Index (10) and the ADL (11)/ IADL(12); quality of life with the Rotterdam Handicap Scale (RHS) (13) and the Short Form 12 (SF-12)(14). In particular, in patients with Pompe disease we have to deal with a deep, progressive and symmetrical muscle weakness, proximal more than distal, involving the lower extremities more frequently than the upper ones, that will determine contractures and deformities. Moreover there are often neck and trunk muscle weakness involving respiratory muscles (diaphragm, intercostals, abdominal and accessory muscles) and this might lead to respiratory failure. Facial and oralmotor weakness is responsible not only of problems of mastication and phonation, but can also give the typical myopathic facies. In terms of functional limitations, myopathic patients experience deficit of walking ability resulting in the need of orthoses or wheelchair, loss of personal autonomy in the activities of daily living, relational-communicative, mental and emotional disabilities. The rehabilitation management of Pompe disease should be comprehensive and preventive, based on an understanding of the pathogenesis of disease progression and on individual assessment. The key of management lies in considering the interaction between the presence, progression and potential remediation of weakness and fatigue. It should optimize and preserve motor and physiological function, prevent or minimize secondary complications, promote and maintain the maximum level of functional independence and participation, and improve the quality of life; maximize the benefits of therapy recombinant and other therapies when they become available.
The rehabilitative approach is nowadays mandatory for comprehensive management of patients affected by metabolic myopathies.