RESUMO
Miyoshi myopathy (MM) is an autosomal recessive dysferlinopathy caused by a mutation in the dysferlin (DYSF) gene on chromosome 2p. Recent findings indicate that MM and Lower Girdle Muscular Dystrophy R2 (LGMD2B) are the same disease. We present the case of a 44-year-old male who first experienced symptoms of MM at the age of 19, initially noticing difficulty climbing stairs and standing on his toes. By the age of 29, he had developed significant calf muscle atrophy and weakness, which led to difficulties with walking. Electromyography and nerve conduction studies showed axonal damage and myogenic features. Genetic testing ruled out Charcot-Marie-Tooth disease but identified a pathogenic variant in the DYSF gene. Laboratory tests revealed elevated creatine kinase levels. Photographs of the patient's lower limbs showed significant calf muscle atrophy. Based on clinical, laboratory, and electrophysiological findings, he was diagnosed with MM. This case highlights the importance of genetic testing in diagnosing muscular dystrophies and underscores the need for continued research into gene and cell therapies. To the best of our knowledge, this is one of the first studies reporting a case of MM in Poland.
RESUMO
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset inherited skeletal myopathy. The diagnosis is based on a clinical presentation of blepharoptosis, dysphagia, and a positive family history of the disease in patients past 40 years of age. A 57-year-old male patient presented with ptosis without lid crease, adult-onset dysphagia, and bilateral pseudophakia. The patient underwent ptosis repair of upper eyelids via frontalis slings with silicone rods. His mother was subsequently found to have ptosis, dry eyes, and anorexia due to dysphagia, thus suggesting a probable family history. Based on the comprehensive ophthalmic evaluation, and based on his ptosis, dysphagia, and family history, the patient was diagnosed with OPMD.