Calpainopathy (Leyden-Mobius Limb-Girdle Muscular Dystrophy Type 2A Phenotype) and Dysferlinopathy (Miyoshi Distal Myopathy Limb-Girdle Muscular Dystrophy Type 2B Phenotype) of Preadolescent Onset: Case Reports of Two Male Filipinos

• Published in: Curēus (Palo Alto, CA) CA), 2022-01, Vol.14 (1), p.e21353
• Main Authors: Quilacio, Joanna May S, Rosales, Raymond L, Ampil, Encarnita R
• Format: Article
• Language: English
• Subjects: Genetics; Neurology; Physical Medicine & Rehabilitation
• ISSN: 2168-8184; 2168-8184
• DOI: 10.7759/cureus.21353

Limb-girdle muscle dystrophy (LGMD) is the fourth most common genetic cause of muscle weakness, with LGMD type 2A (LGMD2A) being one of the most common adult-onset muscular dystrophies presenting with limb-girdle weakness, while LGMD type 2B (LGMD2B) being the most common distal myopathy. This study includes two cases. The first case is a 13-year-old male, with no family history of similar symptoms, who presented with lower extremity weakness at the age of nine, starting with proximal weakness of the lower extremities, progressively involving the upper extremities. He had scapular winging and contracture of both Achilles tendons. The second case involves a 19-year-old male, with a distant family history of weakness, who presented with lower extremity weakness at the age of 10. He had distal myopathy, mainly as foot drop and atrophic gastrocnemii. In both cases, cardiac, intelligence, and bulbar function are spared. Electroneuromyography (ENMG) for both revealed myopathic process. Genetic testing results revealed calpain 3 (CAPN3) and dysferlin (DYSF) abnormality, confirming the diagnosis of LGMD2A and LGMD2B, respectively. This will be the first of its kind adequately documenting two of the most common LGMD subtype in our locale. Clinical phenomenology and preferential muscle involvement lead one to the gold standard genetic testing in heritable myopathies, which was well established in this report.