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]

• Developmental Delay

  delay, abnormal muscle tone, and abnormal eye movement in December 2012. [hkmj.org]

  It is characterized by hypotonia, generalized weakness, severe developmental delay, seizures, microcephaly and elevated CK levels. The electroencephalogram is abnormal in this disorder and shows epileptiform activity. [tellmegen.com]

  WWS is the most severe form of CMD with most children dying before 3 years of age with the reported incidence of 1–2/1,00,000 live births.[1],[2],[3] WWS presents at birth and early infancy with generalized hypotonia, developmental delay, mental retardation [neurologyindia.com]

  It is the most severe form of congenital muscular dystrophy with most children dying before the age of three years.[3] Presentation[edit] The clinical manifestations present at birth are generalized hypotonia, muscle weakness, developmental delay with [en.wikipedia.org]

• Movement Disorder

  disorder Version 1.118 Latest signed off version: v1.58 (6 Oct 2020) review Not set Sources Expert Review Red London North GLH Expert Review Red London North GLH ISPD in Severe Paediatric Disorders Version 1.77 review BIALLELIC, autosomal or pseudoautosomal [panelapp.genomicsengland.co.uk]

• Falling

  Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions. [invitae.com]

• Pathologist

  Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis [invitae.com]

• Muscle Weakness

  The muscle weakness worsens over time. [medlineplus.gov]

  It is the most severe form of congenital muscular dystrophy with most children dying before the age of three years.[3] Presentation[edit] The clinical manifestations present at birth are generalized hypotonia, muscle weakness, developmental delay with [en.wikipedia.org]

• Myopathy

  Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities. Eur J Hum Genet 2010;18(7):852-5. [medlink.com]

• Low Set Ears

  Hypoplasia of the corpus callosum Intellectual disability, profound Lissencephaly Macrogyria Optic nerve hypoplasia Partial agenesis of the corpus callosum Polymicrogyria Subcortical heterotopia Type II lissencephaly Ventriculomegaly Ear malformation Low-set [ncbi.nlm.nih.gov]

• Depressed Nasal Bridge

  Figure 1: (a) Facial profile shows a large head, depressed nasal bridge, long philtrum, and micro-ophthalmia on the right side. [neurologyindia.com]

• 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]

• Occipital Encephalocele

  encephalocele, and Dandy–Walker malformation. [neurologyindia.com]

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]