P.7.3 The adult Duchenne Muscular Dystrophy (DMD) patient: Report of current status and functional issues

Abstract

This report brings out the need for continued care for DMD patients who survived adolescence. Having become wheel-chair dependent (permanently chair-bound) for many years, it is important to continue to maintain mobility in their power wheelchairs, to use computers and be able to perform tabletop activities. This poster specifically addresses the following: Age 18–44. 25 adult DMD patient were individually folowed for 10 or more years. Muscle biopsy-14, sibling of diagnosed DMD child – 5. 6 patients followed the clinical course of DMD patients and were included in the study. Most completed high school; 4 were to college, 2 were in special education studies. All patients had adequate family support. Almost all received care from their own family member. Supplemental home health services were used occasionally when needed by the family and for respite care. Transfers were by Hoyer lift. Stretching and ranging by parents or family members. 12 had long spinal fusions, when the scoliosis became progressive and seating compromised. Maximum correctable spinal curve to neutral = 35degr. 19 have cardiomyopathy and are on 2 medications (beta blocker & ACE inhibitor). MUGA scan are done biannually to check for the ejection fraction, related to the contraction strength of the cardiac chamber. 15 are ventilator dependent; 2 on CPAP when they enrolled for the study. Because of the underlying lung tissue changes, shortness of breath is of concern. If the pulmonary function tests (PFT) become progressively worse, a sleep study is done and CPAP started. Patients are hospitalized for pneumonia. Decision with regards for the need for tracheostomy and ventilation assist is made with the adult patient. This report brings out the need for continued care for DMD patients who survived adolescence. Having become wheel-chair dependent (permanently chair-bound) for many years, it is important to continue to maintain mobility in their power wheelchairs, to use computers and be able to perform tabletop activities. This poster specifically addresses the following: Age 18–44. 25 adult DMD patient were individually folowed for 10 or more years. Muscle biopsy-14, sibling of diagnosed DMD child – 5. 6 patients followed the clinical course of DMD patients and were included in the study. Most completed high school; 4 were to college, 2 were in special education studies. All patients had adequate family support. Almost all received care from their own family member. Supplemental home health services were used occasionally when needed by the family and for respite care. Transfers were by Hoyer lift. Stretching and ranging by parents or family members. 12 had long spinal fusions, when the scoliosis became progressive and seating compromised. Maximum correctable spinal curve to neutral = 35degr. 19 have cardiomyopathy and are on 2 medications (beta blocker & ACE inhibitor). MUGA scan are done biannually to check for the ejection fraction, related to the contraction strength of the cardiac chamber. 15 are ventilator dependent; 2 on CPAP when they enrolled for the study. Because of the underlying lung tissue changes, shortness of breath is of concern. If the pulmonary function tests (PFT) become progressively worse, a sleep study is done and CPAP started. Patients are hospitalized for pneumonia. Decision with regards for the need for tracheostomy and ventilation assist is made with the adult patient.