Muscle eye brain disease (MEBD)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Muscle eye brain disease (MEBD). POMGnT1 gene mutations, The transmission is autosomal recessive. Fully referenced neurology checklist.
Genetics
- POMGnT1 gene mutations
- The transmission is autosomal recessive
Pathology
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Clinical triad
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Typical neurological features
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Atypical neurological features
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Ophthalmic features
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Differential diagnosis
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Magnetic resonance imaging (MRI) brain features
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Muscle biopsy
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Other investigations
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References
- Shenoy AM, Markowitz JA, Bonnemann CG, Krishnamoorthy K, Bossler AD, Tseng BS. Muscle-eye-brain disease. J Clin Neuromuscul Dis 2010; 11:124-126.
- Hehr U, Uyanik G, Gross C, et al. Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. Neurogenetics 2007; 8:279-288.
- Haltia M, Leivo I, Somer H, et al. Muscle-eye-brain disease: a neuropathological study. Ann Neurol 1997; 41:173-180.
- Haliloglu G, Gross C, Senbil N, et al. Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features. Acta Myol 2004; 23:137-139.
- Santavuori P, Somer H, Sainio K, Rapola J, Kruus S, Nikitin T, Ketonen L, Leisti J. Muscle-eye-brain disease (MEB). Brain Dev 1989; 11:147-153.
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