ABSTRACT
Background: Dysferlinopathy is an autosomal recessive disease seen in adolescence or young adulthood. Miyoshi Myopathy is characterized by weakness and wasting of posterior compartment leg muscles rather than the anterior compartment and distal upper limb muscles. Still, the intrinsic muscles of the foot and hands are spared. There are several undiagnosed cases in India and also around the world with dysferlinopathy. Diagnosis for the same requires advanced biological laboratories along with high economic funding for diagnostic purposes. Case Summary: This case report presents a 22-year-old male diagnosed with Miyoshi myopathy/LGMD2b (dysferlinopathy). The subject complained about a loss of balance, strength, and difficulty in performing activities of daily living. The patient was given Aquatic Therapy along with conventional physical therapy for a duration of 6weeks, which included three days of supervised therapy along with 3days home protocol and a rest day kept at the end of every week. Outcome Measures: Standardized scales like the Barthel Index and the Berg Balance Scale were used for the assessment of pre and post the progress of the subject for Quality of Life and Balance, respectively. Manual Muscle testing was used for assessments for pre and post muscle strength of the subject. Conclusion: The timely diagnosis of a rare condition before the advancement of the disorder and thus the use of appropriate intervention of physiotherapy, which consisted of progressive muscle-strengthening exercises along with balance training proved to be promising in preventing falls, muscle atrophy and thus making the patient independent for doing daily activities.
ABSTRACT
The muscular dystrophies are a diverse group of inherited muscle disorders characterized by progressive muscle weakness and wasting with characteristic histologic abnormalities such as degeneration, necrosis, and regeneration of muscle fibers. With progress in molecular genetics methods, new discoveries of dystrophin and related molecules have dramatically changed the understanding and diagnosis of a large group of muscular dystrophy patients. Dystrophin and its related molecular associates are tightly associated and form an essential cytoskeletal system (dystrophin-glycoprotein complex) at the muscle fiber surface membrane, which is critical for maintaining the integrity of the sarcolemma and muscle fibers. Deficiency of one of these sarcolemmal proteins, including dystrophin, dystroglycans, sarcoglycans, and laminin-2, leads to the breakdown and instability of muscle fibers and to clinically observed progressive muscle weakness. Identification of the molecular cause of muscular dystrophies would allow a genetic oriented classification and diagnosis using DNA or protein analysis. However, definition of the molecular pathogenesis of muscular dystrophies has not been completely possible until now. Future advances in this field should allow the exact diagnosis and treatment of muscular dystrophies.