Hereditary myopathy with early respiratory failure in China: one case report and literatures review

Objective To retrospectively analyze the clinical sign and symptom, pathological and genetic characteristics of a case of hereditary myopathy with early respiratory failure (HMERF). Methods and Results A 26‑year‑old female patient presented with muscle weakness (including the proximal and distal arms and lower legs) and myalgia, typical daytime and nighttime respiratory failure symptoms. The serum creatine kinase (CK, 258 U/L) and creatine kinase isoenzyme (CK ‑ MB, 17.80 ng/ml) levels were increased. The EMG showed myogenic changes, and thigh muscle MRI showed selective semitendinous muscle involvement. The skeletal muscle biopsy showed the formation of cytoplasm arranged in the submuscular membrane like a "necklace". Gene test revealed a mutation of TTN gene with c.90211T > C (p. Cys30071Arg). The final diagnosis was HMERF. Conclusions The possibility of HMERF should be considered in patients with unexplained respiratory failure, especially with muscle weakness. Skeletal muscle biopsy and genetic test can make a definitive diagnosis.