Glaucoma or buphthalmos may be present.[1],[2],[3],[4] In any infant presenting with hypotonia, elevated CK, hydrocephalus, brain and eye malformation, and characteristic imaging, the diagnosis of WWS should be considered. [neurologyindia.com]

WWS is the most severe form of ADG-related congenital muscular dystrophy, presenting with profound hypotonia, defective neuronal migration, and associated structural brain and eye abnormalities. [preventiongenetics.com]

Acronym MDDGA7 Synonyms Muscle-eye-brain disease ISPD-related Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 Walker-Warburg syndrome ISPD-related Keywords Any medical or genetic information present in this entry [uniprot.org]

Twelve patients presented with associated brain abnormalities detected by either computerized tomography (CT) or magnetic resonance imaging (MR). [thejns.org]

• Disability

  Disabled World. N.p., 6 Mar. 2010. Web. 8 Dec. 2013. <http://www.disabled-world.com/disability/types/mobility/md/walker-warburg.php>. ^ Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, et al. (November 2002). [en.wikipedia.org]

  Generalized hypotonia Macrocephalus Muscular dystrophy Retrognathia Abnormality of the nervous system Agyria Areflexia Dandy-Walker syndrome Encephalocele Heterotopia Hydrocephalus Hypoplasia of the brainstem Hypoplasia of the corpus callosum Intellectual disability [ncbi.nlm.nih.gov]

  […] altered alpha-dystroglycan.2 Differentiation of Walker-Warburg syndrome from other dystroglycanopathies, for example, muscle-eye-brain disease or Fukuyama CMD, depends on the severity of clinical presentation including motor function and intellectual disability [hkmj.org]

  These changes in the structure of the brain lead to significantly delayed development and intellectual disability. Some individuals with Walker-Warburg syndrome experience seizures. [medlineplus.gov]

  NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 Walker-Warburg syndrome Tags new-gene-name watchlist ISPD in Intellectual disability [panelapp.genomicsengland.co.uk]

• Macrocephaly

  The less commonly observed anomalies include Dandy-Walker malformation, cleft lip and palate, congenital macrocephaly or microcephaly, posterior encephalocoele, ocular colobomas, congenital cataracts, and genital abnormalities. [hkmj.org]

• Low Set Ears

  […] malformation Low-set ears Microtia IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. [ncbi.nlm.nih.gov]

• Frontal Bossing

  [from OMIM] Show allHide all Abnormality of head or neck Dandy-Walker syndrome Encephalocele Frontal bossing Macrocephalus Retrognathia Abnormality of limbs Adducted thumb Abnormality of metabolism/homeostasis Elevated serum creatine phosphokinase Abnormality [ncbi.nlm.nih.gov]

• Areflexia

  Retinal detachment Retinal dysplasia Abnormality of the musculoskeletal system Adducted thumb Dandy-Walker syndrome Encephalocele Frontal bossing Generalized hypotonia Macrocephalus Muscular dystrophy Retrognathia Abnormality of the nervous system Agyria Areflexia [ncbi.nlm.nih.gov]

Treatment Treatment Options: No effective treatment is available but early indications are that FKRP gene therapy restores functional glycosylation and improves muscle functions. [disorders.eyes.arizona.edu]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

[…] motor function and intellectual disability, and involvement of the central nervous system and eye.1 Walker-Warburg syndrome is believed to be the most severe form of dystroglycanopathy with most children dying before the age of 3 years.2 No specific treatment [hkmj.org]

The patient was referred to a neurosurgeon and an ophthalmologist for further management, but the parents choose not to undergo any active treatment. [neurologyindia.com]

Prenatal ultrasound may be helpful for diagnosis in families where the molecular defect is unknown.[8] Prognosis[edit] No specific treatment is available. Management is only supportive and preventive. [en.wikipedia.org]

However, a parietal location carried a better prognosis, which is contrary to the outcome reported in the current literature. [thejns.org]

Prenatal ultrasound may be helpful for diagnosis in families where the molecular defect is unknown.[8] Prognosis[edit] No specific treatment is available. Management is only supportive and preventive. [en.wikipedia.org]

Common ocular issues associated with WWS are abnormally small eyes and retinal abnormalities cause by an underdeveloped light-sensitive area in the back of the eye.[5] Genetics[edit] Several genes have been implicated in the etiology of Walker–Warburg [en.wikipedia.org]

Cerebro-ocular dysgenesis (Walker-Warburg syndrome): neuropathologic and etiologic analysis. Neurology 1984;34:1531-41. PMID 6504323 73 Xiong H, Wang S, Kobayashi K, et al. [medlink.com]

Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. Hum Genet 1996;97:277-9. 4. Lee CY. Walker-Warburg syndrome: Rare congenital muscular dystrophy associated with brain and eye abnormalities. [neurologyindia.com]

CRPPA encodes a protein that may be involved in lipid precursor synthesis (Willer et al. 2012), thus representing a novel pathophysiological mechanism for ADG hypoglycosylation and WWS. [preventiongenetics.com]

Management is mainly supportive and preventive. References 1. Sparks S, Quijano-Roy S, Harper A, et al. Congenital Muscular Dystrophy Overview. 2001 Jan 22 [Updated 2012 Aug 23]. In: Pagon RA, Adam MP, Ardinger HH, et al, editors. [hkmj.org]

Management is only supportive and preventive. Those who are diagnosed with the disease often die within the first few months of life. [en.wikipedia.org]

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