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Merosin-deficient congenital muscular dystrophy with cerebral white matter changes: a clue to its diagnosis beyond infancy.

ABSTRACT: A 6-year-old boy born by a third-degree consanguineous marriage presented with progressive muscle weakness and delayed motor milestones noticed in early infancy with preserved language and social milestones. Examination revealed generalised hypotonia and hyporeflexia. Baseline haematological and biochemical investigations were normal except for mildly elevated creatine kinase. Provisional diagnosis of congenital myopathy was entertained. We performed brain imaging to look for abnormalities associated with congenital muscular dystrophy even though there were only features of myopathy with normal mentation. An MRI of the brain revealed periventricular and subcortical white matter hyperintensities suggestive of leucoencephalopathy. Muscle biopsy findings were consistent with degenerative muscle changes and immunohistochemical staining for merosin was negative, thus confirming the diagnosis of merosin-deficient congenital muscular dystrophy. Supportive care in the form of physiotherapy was initiated. The family was offered genetic counselling in their second pregnancy and immunohistochemistry at 12 weeks confirmed the fetus to be affected, which was then terminated.

SUBMITTER: Kumar S

PROVIDER: S-EPMC3948005 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Merosin-deficient congenital muscular dystrophy with cerebral white matter changes: a clue to its diagnosis beyond infancy.

Kumar Sandeep S Aroor Shrikiran S Mundkur Suneel S Kumar Maneesh M

BMJ case reports 20140306

A 6-year-old boy born by a third-degree consanguineous marriage presented with progressive muscle weakness and delayed motor milestones noticed in early infancy with preserved language and social milestones. Examination revealed generalised hypotonia and hyporeflexia. Baseline haematological and biochemical investigations were normal except for mildly elevated creatine kinase. Provisional diagnosis of congenital myopathy was entertained. We performed brain imaging to look for abnormalities assoc ...[more]

PMID: 24604798

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Project description:Merosin deficient congenital muscular dystrophy 1A (MDC1A) is a very rare autosomal recessive disorder caused by mutations in the LAMA2 gene leading to severe and progressive muscle weakness and atrophy. Although over 350 causative mutations have been identified for MDC1A, no treatment is yet available. There are many therapeutic approaches in development, but the lack of natural history data of the mouse model and standardized outcome measures makes it difficult to transit these pre-clinical findings to clinical trials. Therefore, in the present study, we collected natural history data and assessed pre-clinical outcome measures for the dy2J/dy2J mouse model using standardized operating procedures available from the TREAT-NMD Alliance. Wild type and dy2J/dy2J mice were subjected to five different functional tests from the age of four to 32 weeks. Non-tested control groups were taken along to assess whether the functional test regime interfered with muscle pathology. Respiratory function, body weights and creatine kinase levels were recorded. Lastly, skeletal muscles were collected for further histopathological and gene expression analyses. Muscle function of dy2J/dy2J mice was severely impaired at four weeks of age and all mice lost the ability to use their hind limbs. Moreover, respiratory function was altered in dy2J/dy2J mice. Interestingly, the respiration rate was decreased and declined with age, whereas the respiration amplitude was increased in dy2J/dy2J mice when compared to wild type mice. Creatine kinase levels were comparable to wild type mice. Muscle histopathology and gene expression analysis revealed that there was a specific regional distribution pattern of muscle damage in dy2J/dy2J mice. Gastrocnemius appeared to be the most severely affected muscle with a high proportion of atrophic fibers, increased fibrosis and inflammation. By contrast, triceps was affected moderately and diaphragm only mildly. Our study presents a complete natural history dataset which can be used in setting up standardized studies in dy2J/dy2J mice.

Dataset Information

Merosin-deficient congenital muscular dystrophy with cerebral white matter changes: a clue to its diagnosis beyond infancy.

Publications

Merosin-deficient congenital muscular dystrophy with cerebral white matter changes: a clue to its diagnosis beyond infancy.

Similar Datasets

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