(PMID: 23519211) Jae LT … Brummelkamp TR (Science (New York, N.Y.) 2013) 2 3 4 72 POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. [genecards.org]

Unfortunately, no material of the deceased sibling presenting with a hydrocephalus was available for mutational screening. [link.springer.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]

In congenital muscular dystrophy (CMD), the muscle weakness typically presents shortly after birth to early infancy. The clinical severity, age of onset, and disease progression are highly variable among the different forms of LGMD/CMD. [blueprintgenetics.com]

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]

• Feeding Difficulties

  [from OMIM] Show allHide all Abnormality of head or neck Microcephaly Progressive microcephaly Abnormality of metabolism/homeostasis Elevated serum creatine phosphokinase Abnormality of the digestive system Feeding difficulties Abnormality of the eye [ncbi.nlm.nih.gov]

  Feeding difficulties MedGen UID: 65429 •Concept ID: C0232466 • Finding Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. [203.71.232.25]

• Psychomotor Retardation

  retardation Seizures Type II lissencephaly Abnormality of the respiratory system Respiratory insufficiency due to muscle weakness Ear malformation Sensorineural hearing loss IMPORTANT NOTE: NIH does not independently verify information submitted to the [ncbi.nlm.nih.gov]

  Psychomotor retardation MedGen UID: 98405 •Concept ID: C0424230 • Finding Abnormally slow physical movement. [203.71.232.25]

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]

Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome. 61 6 Abdullah S...Guerin A 28980384 2017 16 Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation. 61 6 Yang H...Xiong H 27193224 2016 17 A Successful Treatment [malacards.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]

PMID: 24120487 Prognosis Czeschik JC, Hehr U, Hartmann B, Lüdecke HJ, Rosenbaum T, Schweiger B, Wieczorek D Eur J Med Genet 2013 Dec;56(12):689-94. Epub 2013 Oct 10 doi: 10.1016/j.ejmg.2013.09.014. PMID: 24120487 [203.71.232.25]

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]

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]

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. [203.71.232.25]

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