787 - Comprehensive Rehabilitation Approach for a Patient with Late-onset Pompe Disease: A Physiatrist's Perspective

Case Diagnosis: Late-onset Pompe Disease

Case Description: A 74-year-old male with a history of stroke was admitted to an acute inpatient rehabilitation facility (IRF) for cardiovascular deconditioning, respiratory distress requiring intermittent BIPAP, camptocormia, and proximal muscle weakness from late-onset Pompe disease. Prior to IRF, patient had prolonged stay in Neuro-ICU for respiratory failure requiring intubation twice that was associated with neuromuscular weakness. A Lysosomal/peroxisomal screening confirmed late-onset Pompe disease.

During IRF stay, speech therapy improved the patient's oropharyngeal dysphagia and cognitive-linguistic deficits. Chest physiotherapy and respiratory muscle training addressed diaphragmatic weakness and camptocormia, resulting in reduced BiPAP use at discharge. Physical and occupational therapy resulted in improvement in proximal extremity weakness. However, there was limited progress in ambulation and daily activities due to kyphosis, balance, and activity tolerance. At discharge patient was able to ambulate with walker short distance, but functionally he was at wheelchair level. Follow-up appointments with genomics, pulmonology, and PM&R were arranged.

Discussions: Late-onset Pompe disease is a rare genetic glycogen storage disease type II that mainly affects muscle function due to deficient acid alpha-glucosidase enzyme. Patients typically experience progressive proximal muscle weakness including diaphragmatic involvement leading to early respiratory insufficiency. Camptocormia and dysphagia are also common. Respiratory therapy was paramount in addressing the patient's shortness of breath and vital for participation in therapies.

Conclusions: Patients with late-onset Pompe disease are rare and have very specific rehabilitation needs. It is important for physiatrists to recognize that early intervention with rehabilitation can optimize the physical and emotional well-being of patients with late-onset Pompe disease.