Proposal of a protocol for functional evaluation of patients with Pompe Disease.

Introduction. Pompe disease is an autosomal recessively inherited lysosomal storage disorder. It is caused by mutations of the gene coding for acid α-glucosidase (GAA), located on chromosome 17 in band q251, resulting in shortage of GAA. Therefore, the lysosomal degradation of glycogen is hampered and glycogen accumulates inside the lysosomes. In healthy individuals the enzyme is active in all organs. Its deficiency is associated with a large spectrum of clinical symptoms. The aim of our study is to validate an assessment protocol for the functional evaluation and care of patients with Pompe disease. Materials and methods. From May 2011 to April 2012, we assessed 6 patients belonging to the same family (brothers and sisters) with a diagnosis of Pompe disease: R.A. 43 y.o., R.Ma. 56 y.o., and R.V. 59 y.o., were females and R.An. 49 y.o., R.M. 53 y.o., and R.C. 42 y.o., were males. Our evaluation protocol consisted of: Range of Motion (ROM); Manual Muscle Testing (MMT); Hand Grip Strength Test; Unipedal stance time test; Functional Ambulation Category; Fatigue Severity Scale; Functional tests, Tinetti Scale; Brief Pain Inventory (BPI); Barthel Index and Modified Rankin Scale Index2 for the disability; Short Form 123 for the quality of life. Furthermore, it was done for each patient a baropodometric examination and a DXA Scan for BMD and lean mass evaluation. Results. The measurement of ROM showed mild limitations in extreme degrees. The Manual Muscle Testing resulted in decreased muscle strength (MMT=4 and MMT=3) more pronounced for proximal than distal muscles. The Hand Grip Strength Test did not show significant alterations. Except for 2 patients, all subjects reported musculoskeletal pain of mild-moderate intensity (BPI range 2.75-4.48), two patients referred that pain interfered with daily life activities. A sense of “fatigue” was perceived by 5 out of 6 patients. One of the brothers presented balance and gait abnormalities more pronounced than the others. Overall, the level of disability was greater for 3 patients, the perception of the quality of life was poor for 4 patients, acceptable for 1 and good for another subject. At the DXA examination, 2 patients resulted osteopenic and 1 osteoporotic. The lean mass evaluation showed values ranging from 53.8% to 80.7% (average value 63.2%). Conclusions. As outlined in the document for the rehabilitation of neuromuscular disorders, published by the council for Neuromuscular Diseases of the Ministry of Health, in patients with disability related to neuromuscular diseases, the complicated clinical issues require the presence of several health professionals. The team should ensure a comprehensive management of the rehabilitative intervention, carrying out the therapeutic project through selective and targeted programs. Our protocol is exhaustive and easy to administer in order to plan a comprehensive care for patients affected by neuromuscular diseases. Bibliography 1. Hesselink RP, Gorselink M, Schaart G, et al. Muscle Nerve 2002;25: 873-83. 2. Mahoney FI, Barthel DW (1965) Functional evaluation: The Barthel Index. Md State Medical J 14:61–65. 3. Ware JE Jr., Gandek B. Overview of the SF-36 Health Survey and the International Quality of Life Assessment (IQOLA) Project. J Clin Epidemiol 1998;51:903–912