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Titinopathy, an atypical respiratory failure
- 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.
- Subjects :
- 0301 basic medicine
Adult
medicine.medical_specialty
Neurology
Neuromuscular disease
Biopsy
Disease
Diagnosis, Differential
03 medical and health sciences
0302 clinical medicine
Muscular Diseases
Rare Disease
Internal medicine
medicine
Humans
Apathy
Connectin
Myopathy
Muscle, Skeletal
Muscle biopsy
Muscle Weakness
medicine.diagnostic_test
business.industry
Palliative Care
Genetic Diseases, Inborn
General Medicine
medicine.disease
030104 developmental biology
Dyspnea
Respiratory failure
Asthenia
Mutation
Cardiology
Breathing
Female
medicine.symptom
business
Respiratory Insufficiency
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- BMJ Case Rep
- Accession number :
- edsair.doi.dedup.....35c4a96886917b2296bc0637b9584e91