TY - JOUR T1 - Titinopathy, an atypical respiratory failure JF - BMJ Case Reports JO - BMJ Case Reports DO - 10.1136/bcr-2020-235378 VL - 13 IS - 9 SP - e235378 AU - Joana Morais AU - Ana Andrade Oliveira AU - Olga Pires AU - Inês Burmester AU - Maria João Regadas AU - Paulo Gouveia Y1 - 2020/09/01 UR - http://casereports.bmj.com/content/13/9/e235378.abstract N2 - Hereditary myopathy with early respiratory failure is a neuromuscular disease with an autosomal dominant inheritance pattern. Clinical presentation is characterised by proximal and distal muscle weakness, exertional dyspnoea and generalised fatigue. There is no disease-modifying therapy and the prognosis is unknown. Herein we present a case of a 40-year-old woman with long-standing asthenia and apathy and, more recently, daytime sleepiness, dyspnoea and difficulty in walking. A hypercapnic respiratory failure with severe acidemia was identified. The muscle biopsy showed the presence of cytoplasmatic bodies and rimmed vacuoles, suggestive of a hereditary myopathy with early respiratory failure disease. The genetic study confirmed this diagnosis identifying a heterozygous mutation on c.95134T>C (p.Cys31712Arg) in exon 343 in the titin gene. The patient was discharged home under supportive treatment with non-invasive ventilation. ER -