Acronym MDDGA6 Synonyms Muscle-eye-brain disease LARGE-related Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 Walker-Warburg syndrome LARGE-related Keywords Any medical or genetic information present in this [uniprot.org]

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]

A Dandy-Walker malformation is often present. Type II lissencephaly, cerebellar malformations and severe mental retardation are other features. [disorders.eyes.arizona.edu]

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]

No distinguishing features are present in muscle biopsy specimens, differentiating these disorders from the congenital myopathies. [emedicine.medscape.com]

• Muscle Weakness

  Walker-Warburg syndrome affects the skeletal muscles, which are muscles the body uses for movement. Affected babies have weak muscle tone (hypotonia) and are sometimes described as "floppy." The muscle weakness worsens over time. [medlineplus.gov]

  Clinical manifestations In addition to muscle weakness, muscle hypotonia, also existing from birth, which is also known as floppy infant, is typical. In addition, contractures and joint deformities can also exist from birth. [de.zxc.wiki]

  (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5) Muscular dystrophy MedGen UID: 44527 •Concept ID: C0026850 • Disease or Syndrome A group of inherited progressive muscle disorders characterized by muscle weakness and eventual death of the muscle [ncbi.nlm.nih.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]

  Appropriate muscle biopsy studies are crucial for accurate diagnosis. In 1903, Batten described 3 children who had proximal muscle weakness from birth. [emedicine.medscape.com]

• Seizure

  Seizures are common and cognitive impairment is often severe. At the age of five approximately, the motor ability of patients decreases and they start to suffer from contractures and spsticity. [tellmegen.com]

  […] 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 mental retardation and occasional seizures [en.wikipedia.org]

  FKTN mutations cause type A4 MDDG (MDDGA4; 253800) associated with the Fukuyama type of congenital muscular dystrophy but they can also cause type B4 (MDDGB4; 613152) which does not have mental retardation, and type C4 (MDDGC4; 611588) with seizures and [disorders.eyes.arizona.edu]

  Some individuals with Walker-Warburg syndrome experience seizures. Eye abnormalities are also characteristic of Walker-Warburg syndrome. [medlineplus.gov]

  The major causes of morbidity and mortality are related to respiratory insufficiency, bulbar and limb weakness, contractures, seizures, ocular pathology, and mental retardation and associated brain pathology. [emedicine.medscape.com]

• Areflexia

  […] creatine kinase concentration Abnormality of the eye Cataract Optic atrophy Retinal dysplasia Abnormality of the musculoskeletal system Dandy-Walker syndrome Flexion contracture Muscular dystrophy Severe muscular hypotonia Abnormality of the nervous system Areflexia [ncbi.nlm.nih.gov]

• Epileptiform Activity

  The electroencephalogram is abnormal in this disorder and shows epileptiform activity. Cortical dysgenesis is detected by computed tomography or brain magnetic resonance. [tellmegen.com]

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]

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]

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]

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]

Diagnosis and etiology of congenital muscular dystrophy. Neurology. 2008 Jul 29. 71 (5):312-21. [QxMD MEDLINE Link]. Okada M, Kawahara G, Noguchi S, Sugie K, Murayama K, Nonaka I, et al. [emedicine.medscape.com]

Epidemiology Frequency An Italian study identified mutations in 220 of 336 patients (65.5%). [emedicine.medscape.com]

Pathophysiology The pathophysiology of the congenital muscular dystrophies depends on the specific genetic defect for each of the dystrophies and is discussed with each of the congenital muscular dystrophies below. [emedicine.medscape.com]

It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. [ncbi.nlm.nih.gov]

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]