Muscle eye brain disease

Common Name(s)

Muscle eye brain disease

Muscle eye brain disease is a rare form of congenital muscular dystrophy. Individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma, and brain abnormalities. They also have developmental delay and intellectual disability. People with muscle eye brain disease frequently have additional eye abnormalities, hydrocephalus, and distinctive facial features. This condition is caused by mutations in gene a called POMGNT1, and it is inherited in an autosomal recessive pattern. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Muscle eye brain disease" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Muscle eye brain disease" returned 7 free, full-text research articles on human participants. First 3 results:

Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.
 

Author(s): S Saredi, A Ardissone, A Ruggieri, E Mottarelli, L Farina, R Rinaldi, E Silvestri, C Gandioli, S D'Arrigo, F Salerno, L Morandi, P Grammatico, C Pantaleoni, I Moroni, M Mora

Journal: J. Neurol. Sci.. 2012 Jul;318(1-2):45-50.

 

Congenital muscular dystrophies due to defects in genes encoding proteins involved in α-dystroglycan (α-DG) glycosylation are a heterogeneous group of muscle disorders variably associated with central nervous system and eye abnormalities. One of the more severe is muscle-eye-brain ...

Last Updated: 1 Jun 2012

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Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
 

Author(s): Josef Voglmeir, Sara Kaloo, Nicolas Laurent, Marco M Meloni, Lisa Bohlmann, Iain B H Wilson, Sabine L Flitsch

Journal: Biochem. J.. 2011 Jun;436(2):447-55.

 

Congenital muscular dystrophies have a broad spectrum of genotypes and phenotypes and there is a need for a better biochemical understanding of this group of diseases in order to aid diagnosis and treatment. Several mutations resulting in these diseases cause reduced O-mannosyl glycosylation ...

Last Updated: 16 May 2011

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Muscle-Eye-Brain disease.
 

Author(s): Anant M Shenoy, Jennifer A Markowitz, Carsten G Bonnemann, Kalpathy Krishnamoorthy, Aaron D Bossler, Brian S Tseng

Journal: J Clin Neuromuscul Dis. 2010 Mar;11(3):124-6.

 

A term female infant was evaluated for global developmental delay, hypotonia, hyporeflexia, diffuse weakness including facial muscles, and visual impairment with optic nerve hypoplasia. In the absence of family history or perinatal concerns, an extensive investigation was performed, ...

Last Updated: 10 Mar 2010

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Muscle eye brain disease" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Congenital Muscle Disease Study of Patient and Family Reported Medical Information
 

Status: Recruiting

Condition Summary: Muscular Dystrophy; Congenital Muscular Dystrophy; Fukutin-related Protein Gene; Limb Girdle; FKRP Gene; Childhood Onset LGMD; Adult Onset LGMD; POMT1; POMT2; POMGnT1; LARGE; Alpha Dystroglycan; Dystroglycanopathy; Centronuclear; Multiminicore; Multicore; Minicore; Congenital Fiber Type Disproportion; Myotubular; Nemaline; Congenital Myopathy; Neuromuscular; Rigid Spine; Phenotype-Genotype Correlation; Cough Assisted Device; Neuromuscular Disease; Respiratory Exacerbation; Invasive Ventilation; Chest Physiotherapy; Congenital Myopathies; Genetic Mutations; Hypertrophic Cardiomyopathy; Wheelchair Use; Cataract; Opthalmoplegia; Ullrich Congenital Muscular Dystrophy; Intermediate Collagen VI Myopathy; Laminin Alpha 2 Related Congenital Muscular Dystrophy; MDC1A; Merosin Deficient Congenital Muscular Dystrophy; Congenital Muscular Dystrophy Undiagnosed; Congenital Muscular Dystrophy Merosin Positive; Walker Warburg Syndrome; Muscle Eye Brain Disease; Fukuyama; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; Laminopathy; Lamin AC; SEPN 1 Related Myopathies; Bethlem Myopathy; Dystroglycanopathies; LGMD2K; LGMD2I; LGMD2L; LGMD2N; Actin Aggregation Myopathy; Cap Disease; Central Core Disease; Centronuclear Myopathy; Core Rod Myopathy; Hyaline Body Myopathy; Multiminicore Myopathy; Myotubular Myopathy; Nemaline Myopathy; Tubular Aggregate Myopathy; Zebra Body Disease Myopathy; Congenital Myopathy Other; Reducing Body Myopathy; Sarcotubular Myopathy; Spheroid Body Myopathy

 

Last Updated: 13 Nov 2013

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Functional Neuroimaging in Fibromyalgia Patients Receiving tDCS
 

Status: Recruiting

Condition Summary: Fibromyalgia; Chronic Pain

 

Last Updated: 17 Jul 2013

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