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Titinopathy, an atypical respiratory failure

Authors :
I Burmester
Olga Pires
Joana Morais
Paulo Gouveia
MJ Regadas
Ana Andrade Oliveira
Source :
BMJ Case Rep
Publication Year :
2020
Publisher :
BMJ Publishing Group, 2020.

Abstract

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.

Details

Language :
English
Database :
OpenAIRE
Journal :
BMJ Case Rep
Accession number :
edsair.doi.dedup.....35c4a96886917b2296bc0637b9584e91