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Muscular Dystrophy-Dystroglycanopathy Type A11
Muscle-Eye-Brain Disease Type A11

Presentation

[…] congenital glaucoma Surgery for dysplastic retina does not confer any visual benefit Rhegmatogenous retinal detachment associated with MEB may be amenable to scleral buckling or vitrectomiesSystemic Multidisciplinary approach Therapies under research None at present [gene.vision]

Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. [ncbi.nlm.nih.gov]

The signs and symptoms of Walker-Warburg syndrome are present at birth or in early infancy. Because of the severity of the problems caused by Walker-Warburg syndrome, most affected individuals do not survive past age 3. [medlineplus.gov]

Neurologic

  • Spastic Quadriplegia

    ORPHA:98850 Ichthyosis, Spastic Quadriplegia, And Mental Retardation Hyperkeratosis, Ichthyosis OMIM:614457 Sézary Syndrome Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy ORPHA:3162 Methylmalonic Aciduria, Cblb Type Dehydration [mousephenotype.org]

Treatment

Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review. Mol Aspects Med. 2016 Oct;51:115-24. doi: 10.1016/j.mam.2016.07.003. Epub 2016 Jul 12. Review. [medlineplus.gov]

Prevention

Mutations in the genes associated with Walker-Warburg syndrome prevent glycosylation of α-dystroglycan, which disrupts its normal function. [medlineplus.gov]

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