Respiratory features of centronuclear myopathy in the Netherlands

Bouma, Sietse; Cobben, Nicolle; Bouman, Karlijn; Gaytant, Michael; van de Biggelaar, Ries; van Doorn, Jeroen; Reumers, Stacha F.I.; Voet, Nicoline BM; Doorduin, Jonne; Erasmus, Corrie E.; Kamsteeg, Erik-Jan; Jungbluth, Heinz; Wijkstra, Peter; Voermans, Nicol C.

doi:10.1016/j.nmd.2023.06.003

Cited by 1 publication

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“…Regardless of the pathological type, there will be varying degrees of impact of respiratory function, resulting in pulmonary-related complications [ 6 , 26 ]. A recent study summarized the respiratory features of centronuclear myopathy included RYR1 -mutated individuals, and found that supine respiratory function measurements of patients were overall lower than sitting measurements [ 27 ]. The present case experienced aggravating dyspnea, hypoxia and worse respiratory function in supine position, and hypoventilation during sleep, which were consistent with the characteristics of the disease.…”

Section: Discussionmentioning

confidence: 99%

Unusual cause of muscle weakness, type II respiratory failure and pulmonary hypertension: a case report of ryanodine receptor type 1(RYR1)-related myopathy

Chen,

Zhang,

et al. 2024

BMC Pulm Med

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Background Patients with congenital myopathies may experience respiratory involvement, resulting in restrictive ventilatory dysfunction and respiratory failure. Pulmonary hypertension (PH) associated with this condition has never been reported in congenital ryanodine receptor type 1(RYR1)-related myopathy. Case presentation A 47-year-old woman was admitted with progressively exacerbated chest tightness and difficulty in neck flexion. She was born prematurely at week 28. Her bilateral lower extremities were edematous and muscle strength was grade IV−. Arterial blood gas analysis revealed hypoventilation syndrome and type II respiratory failure, while lung function test showed restrictive ventilation dysfunction, which were both worse in the supine position. PH was confirmed by right heart catheterization (RHC), without evidence of left heart disease, congenital heart disease, or pulmonary artery obstruction. Polysomnography indicated nocturnal hypoventilation. The ultrasound revealed reduced mobility of bilateral diaphragm. The level of creatine kinase was mildly elevated. Magnetic resonance imaging showed myositis of bilateral thigh muscle. Muscle biopsy of the left biceps brachii suggested muscle malnutrition and congenital muscle disease. Gene testing revealed a missense mutation in the RYR1 gene (exon33 c.C4816T). Finally, she was diagnosed with RYR1-related myopathy and received long-term non-invasive ventilation (NIV) treatment. Her symptoms and cardiopulmonary function have been greatly improved after 10 months. Conclusions We report a case of RYR1-related myopathy exhibiting hypoventilation syndrome, type II respiratory failure and PH associated with restrictive ventilator dysfunction. Pulmonologists should keep congenital myopathies in mind in the differential diagnosis of type II respiratory failure, especially in patients with short stature and muscle weakness.

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Section: Discussionmentioning

confidence: 99%