A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance

Manzur, A.; Sewry, Caroline A.; Ziprin, J.; Dubowitz, Victor; Muntoni, Francesco

doi:10.1016/s0960-8966(98)00064-9

Cited by 44 publications

(25 citation statements)

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“…There have been rare reports of coexistence of nemaline rods and central cores. Core-like target lesions may occur in long standing neurogenic atrophy, and central cores have also been reported in tenotomized muscles in animal experimental studies 7 . On the other hand, the effect of AS on skeletal muscle and the neuromuscular manifestations of AS has been minimally reported.…”

Section: Discussionmentioning

confidence: 95%

“…4 Association of CCD with osteoarticular deformities includes congenital dislocation or dysplasia of the hip, kyphoscoliosis, pes cavus, pes planus, clubfoot, recurrent dislocation of the patella, camptodactyly, and hypermobility of the joints [1][2][3][4][5][6] . Most of the reported cases have shown an autosomal dominant pattern of inheritance and at least one gene responsible is the ryanodine receptor gene (RYR1) at chromosome 19q13.1 7 . However, sporadic cases and autosomal recessive inheritance have been described, often with atypical clinical features 4,7 .…”

mentioning

confidence: 99%

“…Most of the reported cases have shown an autosomal dominant pattern of inheritance and at least one gene responsible is the ryanodine receptor gene (RYR1) at chromosome 19q13.1 7 . However, sporadic cases and autosomal recessive inheritance have been described, often with atypical clinical features 4,7 .…”

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Ankylosing spondylitis and central core disease: case report

Scola

Lin

Iwamoto

et al. 2003

Arq. Neuro-Psiquiatr.

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-Ankylosing spondylitis (AS) is an inflammatory disorder of unknown cause that primarily affects the axial skeleton. Neurological manifestations of AS are usually related to spinal deformities. Previous studies of the paraspinal muscles of AS patients showed muscle fiber atrophy, and core fibers. On the other hand, central core disease (CCD) is a genetic condition that primarily involves the skeletal muscles, but can present articular deformities secondary to muscular weakness. We report the case of a 45-year-old man with clinical and radiological diagnosis of AS and proximal muscular weakness in the lower limbs. Needle electromyography showed myopathic features and nerve conduction study was normal. Muscle biopsy disclosed almost complete predominance of type-1 fibers, and fibers with central cores. This is the first report of AS and CCD. Whether central core myopathy is coincidental or a new association with AS is discussed.KEY WORDS: ankylosing spondylitis, central core disease, muscle biopsy. Espondilite anquilosante e doença do core central: relato de casoRESUMO -A espondilite anquilosante (EA) é desordem inflamatória de causa desconhecida que afeta primariamente o esqueleto axial. Estudos prévios dos músculos para-espinhais em pacientes acometidos de EA demonstraram atrofia de fibras musculares e fibras com core central. Por outro lado, a doença do core central (DCC) é condição genética que envolve primariamente a musculatura esquelética, podendo acarretar deformidades articulares devido a fraqueza muscular. Relatamos o caso de um paciente de 45 anos com diagnóstico clínico e radiológico de espondilite anquilosante e fraqueza muscular proximal nos membros inferiores. A eletromiografia de agulha mostrou padrão miopático e a biópsia muscular evidenciou predominância quase total de fibras tipo 1 e fibras com cores, compatível com DCC. Este é o primeiro relato de EA e DCC. Discutimos se a EA é apenas coincidência ou uma nova associação com a DCC. PALAVRAS-CHAVE: espondilite anquilosante, doença do core central, biópsia muscular.

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Ankylosing spondylitis and central core disease: case report

Scola

Lin

Iwamoto

et al. 2003

Arq. Neuro-Psiquiatr.

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“…Manzur et al reported a severe CCD phenotype in two children from unaffected parents and suggested the possibility of recessive inheritance; DNA analysis was not available to the authors at the time. 14 Recently, however, DNA analysis has shown such sporadic cases to possess heterozygote mutations in the RYR1 gene, and has suggested that de novo mutations are relatively common among CCD cases. 10 Testing for MH involves an in vitro contracture test (IVCT) developed by the European and North American malignant hyperthermia groups.…”

Section: Discussionmentioning

confidence: 99%

Central core disease: clinical, pathological, and genetic features

Quinlivan¹

2003

Archives of Disease in Childhood

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“…The spectrum of involvement ranges from asymptomatic to severely disabling. [3][4][5][6][7][8] The most common associated deformities in the literature include developmental dysplasia of the hip, kyphoscoliosis, pes planus, pes cavus, talipes equinus, patellofemoral instability, and contractures of the extremities and digits. 8,9 Malignant hyperthermia is the greatest medical concern.…”

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A Case Report of Severe Kyphoscoliosis and Autofusion of the Posterior Elements in Two Siblings With Central Core Disease

Sestero¹,

Perra²

2005

Spine

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A diagnosis of central core disease must be considered in patients presenting with severe spinal deformity and myopathic symptoms. This spinal deformity may be progressive and become severe. Surgical intervention in these cases may be complicated by posterior element autofusion necessitating alteration in surgical technique to correct the deformity. Despite the risk of malignant hyperthermia, surgery may be performed safely.

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A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance

Cited by 44 publications

References 14 publications

Ankylosing spondylitis and central core disease: case report

Ankylosing spondylitis and central core disease: case report

Central core disease: clinical, pathological, and genetic features

A Case Report of Severe Kyphoscoliosis and Autofusion of the Posterior Elements in Two Siblings With Central Core Disease

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