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Case report
Titinopathy, an atypical respiratory failure
  1. Joana Morais,
  2. Ana Andrade Oliveira,
  3. Olga Pires,
  4. Inês Burmester,
  5. Maria João Regadas and
  6. Paulo Gouveia
  1. Internal Medicine, Hospital de Braga, Braga, Portugal
  1. Correspondence to Dr Joana Morais; joana.morais.vnf{at}gmail.com

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.

  • neurology
  • muscle disease
  • neuromuscular disease
  • respiratory medicine
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Footnotes

  • Contributors JM and AAO are the first authors of the article. JM: conception and design, acquisition of data or analysis and interpretation of data; drafting the article or revising it critically for important intellectual content; final approval of the version published; agreement to be accountable for the article and to ensure that all questions regarding the accuracy or integrity of the article are investigated and resolved. AAO: conception and design, acquisition of data or analysis and interpretation of data; drafting the article or revising it critically for important intellectual content; final approval of the version published; agreement to be accountable for the article and to ensure that all questions regarding the accuracy or integrety of the article are investigated and resolved. OP: conception and design, acquisition of data or analysis and interpretation of data; drafting the article or revising it critically for important intellectual content; final approval of the version published; agreement to be accountable for the article and to ensure that all questions regarding the accuracy or integrity of the article are investigated and resolved. IB: conception and design, acquisition of data or analysis and interpretation of data; drafting the article or revising it critically for important intellectual content; final approval of the version published; agreement to be accountable for the article and to ensure that all questions regarding the accuracy or integrity of the article are investigated and resolved. MJR: conception and design, acquisition of data or analysis and interpretation of data; drafting the article or revising it critically for important intellectual content; final approval of the version published; agreement to be accountable for the article and to ensure that all questions regarding the accuracy or integrity of the article are investigated and resolved. PG: conception and design, acquisition of data or analysis and interpretation of data; drafting the article or revising it critically for important intellectual content; final approval of the version published; agreement to be accountable for the article and to ensure that all questions regarding the accuracy or integrity of the article are investigated and resolved.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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