Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects

Reed, Umbertina Conti

doi:10.1590/s0004-282x2009000100038

Cited by 74 publications

(81 citation statements)

References 208 publications

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“…Patients with GPR56 mutations have bilateral frontoparietal polymicrogyria seen in an anteroposterior distribution, bilateral patchy white matter changes and brainstem and cerebellar hypoplasia (282). Whilst the MRI findings are clearly similar to those seen in the midgroup of patients reported here (12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23), the polymicrogyria seen in patients with GPR56 mutations affects predominantly the fronto-parietal regions and not the temporal and occipital areas also seen in patient with a dystroglycanopathy (302). In addition cerebellar cysts or scalloped appearance to the back of the brainstem has not been reported in patients with GPR56 mutations.…”

Section: Discussionsupporting

confidence: 66%

Congenital Muscular Dystrophy

2010

IJRA

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The second part of the thesis is concerned with the dystroglycanopathies, a recently described group of CMDs associated with aberrant glycosylation of alpha dystroglycan.To date, 7 genes have been identified, some of which give rise to multiple dystroglycanopathy phenotypes. I studied the genotype-phenotype relationship in a large group of dystroglycanopathy patients, reporting new clinical phenotypes and establishing the mutation frequency in this group. I also report in detail the spectrum of MRI brain changes seen in 27 dystroglycanopathy patients.In summary, this work reports the diagnostic outcome in the largest cohort of UK CMD cases studied and refines the genotype-phenotype correlation in patients with dystroglycanopathies.

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Section: Discussionsupporting

confidence: 66%

Congenital Muscular Dystrophy

2010

IJRA

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“…In conclusion later studies describing the molecular mechanisms ( Figure 4) involved in limb girdle muscular dystrophies will be necessary to elucidate the physiopathogenic mechanisms of these diseases 4,9,29,34,42,57,58,59 . The precise differential diagnosis of limb girdle muscular dystrophies may be achieved through an integrated clinical, laboratorial, neurophysiological and image studies approach.…”

Section: Discussionmentioning

confidence: 99%

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

Cotta¹,

Carvalho²,

da-Cunha-Júnior³

et al. 2014

Arq. Neuro-Psiquiatr.

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Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function. Detailed clinical, laboratorial, imaging, diagnostic flowchart, photographs, tables, and illustrated diagrams are presented for the differential diagnosis of common autosomal recessive limb girdle muscular dystrophy subtypes diagnosed nowadays at one reference center in Brazil. Preoperative image studies guide muscle biopsy site selection. Muscle involvement image pattern differs depending on the limb girdle muscular dystrophy subtype. Muscle involvement is conspicuous at the posterior thigh in calpainopathy and fukutin-related proteinopathy; anterior thigh in sarcoglycanopathy; whole thigh in dysferlinopathy, and telethoninopathy. The precise differential diagnosis of limb girdle muscular dystrophies is important for genetic counseling, prognostic orientation, cardiac and respiratory management. Besides that, it may probably, in the future, provide specific genetic therapies for each subtype.Keywords: muscular dystrophies, ultrasonography, biopsy, magnetic resonance imaging, neuromuscular diseases. RESUMOAs distrofias musculares progressivas cintura-membros são desordens neuromusculares hereditárias autossômicas heterogêneas. Elas produzem alterações distróficas à biópsia muscular e estão associadas a mutações em diversos genes envolvidos na estrutura e função muscular. Fluxograma diagnóstico, fotos, tabelas e diagramas ilustrados dos aspectos clínicos, laboratoriais e de imagem são apresentados para o diagnóstico diferencial de distrofias musculares cintura-membros autossômicas recessivas comuns, diagnosticadas atualmente em um centro de referência no Brasil. Exames de imagem pré-operatórios direcionam o local da biópsia muscular. O padrão de envolvimento muscular difere de acordo com o subtipo de distrofia muscular cintura-membros. A substituição fibroadiposa do tecido muscular é mais acentuada no compartimento posterior da coxa na calpainopatia e proteinopatia relacionada à fukutina; anterior da coxa na sarcoglicanopatia; difusa na coxa na disferlinopatia e teletoninopatia. O diagnóstico diferencial preciso das distrofias musculares cintura-membros é importante para o aconselhamento genético, orientação prognóstica, tratamento cardíaco e respiratório. Além disso poderá, no futuro, provavelmente, propiciar terapias gênicas específicas para cada subtipo.Palavras-chave: distrofias musculares, ultrassonografia, biópsia, imagem por ressonância magnética, doenças neuromusculares.

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“…The muscle histopathology in the majority of the cases is nonspecific similar to myopathy changes with fibro fatty accumulation (5). Images of the spine show atrophy of the paraspinal muscles, a diagnostic feature.…”

Section: Contextmentioning

confidence: 99%

Rigid Spine Syndrome in Children

Koul

2016

Arch Neurosci

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Context: Rigid spine syndrome is rare in children. It is commonly observed in the end stage of the muscular dystrophies. Another entity called primary rigid spine or spinal muscular dystrophy syndrome, rigidity of spine is noted at the beginning of a muscle disease. The two conditions should be differentiated. Evidence Acquisition: The first child with primary rigid spine syndrome was observed in 1996. Twelve children were observed over the last eighteen years and were followed up regularly in the hospital under study. The children were diagnosed with rigid spine syndrome if there was restriction of the neck movements, particularly on the bending of the spine. The diagnosis was based on clinical features, biochemical tests, electrophysiological findings, imaging and muscle biopsy. Genetic tests were not available in the past, but were done recently in three children. Results: Twelve children (nine males and three females) were observed. Ten children had primary rigid spine and two had secondary rigid spine syndrome. Conclusions: The current study described twelve children with rigid spine syndrome from Oman; ten with primary rigid spine (rigid spinal muscular dystrophy) and two with secondary rigid spine syndrome. The condition is rare in children. Early neck stiffness is the key to diagnosis.

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Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects

Cited by 74 publications

References 208 publications

Congenital Muscular Dystrophy

Congenital Muscular Dystrophy

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

Rigid Spine Syndrome in Children

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