Multicore myopathy: respiratory failure and paraspinal muscle contractures are important complications

Rowe, P W; Eagle, Michelle; Pollitt, C; Bullock, R. E.; Bushby, Kate

doi:10.1017/s0012162200000591

Cited by 21 publications

(3 citation statements)

References 18 publications

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“…A progressive scoliosis, often associated with lateral trunk deviation, and respiratory impairment have typically evolved by the second decade. Respiratory impairment may lead to secondary cardiac failure [7,8,14-16] and is often grossly out of proportion to the overall degree of weakness.…”

Section: Clinical Descriptionmentioning

confidence: 99%

Multi-minicore Disease

Jungbluth

2007

Orphanet J Rare Dis

115

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Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown. Marked clinical variability corresponds to genetic heterogeneity: the most instantly recognizable classic phenotype characterized by spinal rigidity, early scoliosis and respiratory impairment is due to recessive mutations in the selenoprotein N (SEPN1) gene, whereas recessive mutations in the skeletal muscle ryanodine receptor (RYR1) gene have been associated with a wider range of clinical features comprising external ophthalmoplegia, distal weakness and wasting or predominant hip girdle involvement resembling central core disease (CCD). In the latter forms, there may also be a histopathologic continuum with CCD due to dominant RYR1 mutations, reflecting the common genetic background. Pathogenetic mechanisms of RYR1-related MmD are currently not well understood, but likely to involve altered excitability and/or changes in calcium homeoestasis; calcium-binding motifs within the selenoprotein N protein also suggest a possible role in calcium handling. The diagnosis of MmD is based on the presence of suggestive clinical features and multiple cores on muscle biopsy; muscle MRI may aid genetic testing as patterns of selective muscle involvement are distinct depending on the genetic background. Mutational analysis of the RYR1 or the SEPN1 gene may provide genetic confirmation of the diagnosis. Management is mainly supportive and has to address the risk of marked respiratory impairment in SEPN1-related MmD and the possibility of malignant hyperthermia susceptibility in RYR1-related forms. In the majority of patients, weakness is static or only slowly progressive, with the degree of respiratory impairment being the most important prognostic factor.

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Section: Clinical Descriptionmentioning

confidence: 99%

Multi-minicore Disease

Jungbluth

2007

Orphanet J Rare Dis

115

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“…Many studies have confirmed that the mechanical imbalance of the spine could lead to scoliosis [2,[7][8][9][10]. Injury of the paraspinal soft tissue beside the spine could result in this mechanical imbalance.…”

Section: Discussionmentioning

confidence: 99%

“…However, there are many types of scoliosis caused by known etiological factors. Duchenne muscular dystrophy, thoracotomy, multicore myopathy with paraspinal contractures, contractures and growth disturbances in the hip and pelvis, radiation to the juxtaspinal and fractures to the bony spinal column along with continued exposure to physiological stresses were reported to be the causes of scoliosis [1,4,[7][8][9][10]. The prevalence of these types of scoliosis is much lower than that of AIS, and their physiological characters and treatment principles are different from that of AIS.…”

mentioning

confidence: 99%

Adolescent scar contracture scoliosis caused by back scalding during the infantile period

Qiu

Wang

et al. 2007

Eur Spine J

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The study design was a retrospective study in adolescent scar contracture scoliosis caused by back scalding during the infantile period. The objective of the study was to investigate the pathogenesis, clinical manifestation and treatment of adolescent scar contracture scoliosis caused by back scalding during the infantile period. This condition seldom occurs and is not reported in current English literature. One patient was first treated with skin expansion, back scar excision and skin flap transfer, followed by anterior correction with TSRH instrumentation. Two patients were first treated with back scar excision and anterior spinal release. One patient was treated with posterior correction with TSRH instrumentation, and thoracoplasty was performed after 50 days in halo-wheelchair traction. The other patient was treated with posterior correction with TSRH instrumentation. No management of scalding was performed on the fourth patient. Anterior release and posterior correction were performed at an interval of 3 weeks. The deformities of four patients were well corrected. Trunk balance was restored and the pelvis leveled. The skin incision wounds healed well. Minor loss of correction was recorded during the last follow-up. Severe scar contracture caused by back scalding during the infantile period could lead to adolescent scoliosis. Its pathogenesis and clinical manifestation are different from the typical adolescent idiopathic scoliosis. The treatment of this kind of scoliosis should be individualized.

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Respiratory muscle training in children and adults with neuromuscular disease

Eagle¹,

Chatwin²

2006

Cochrane Database of Systematic Reviews

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Multicore myopathy: respiratory failure and paraspinal muscle contractures are important complications

Cited by 21 publications

References 18 publications

Multi-minicore Disease

Multi-minicore Disease

Adolescent scar contracture scoliosis caused by back scalding during the infantile period

Respiratory muscle training in children and adults with neuromuscular disease

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