Walker-Warburg syndrome
Last updated 11 Aug 2023
Meets Patient’s editorial guidelines
- DownloadDownload
- Share
- Language
- Discussion
- Audio Version
- Add to preferred sources on Google
Walker-Warburg syndrome is an inherited disorder that affects development of the muscles, brain, and eyes. It is the most severe of a group of genetic conditions known as congenital muscular dystrophies, which cause muscle weakness and wasting (atrophy) beginning very early in life. 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 childhood.
Description
Walker-Warburg syndrome is an inherited disorder that affects development of the muscles, brain, and eyes. It is the most severe of a group of genetic conditions known as congenital muscular dystrophies, which cause muscle weakness and wasting (atrophy) beginning very early in life. 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 childhood.
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.
Walker-Warburg syndrome also affects the brain; individuals with this condition typically have a brain abnormality called cobblestone lissencephaly, in which the surface of the brain lacks the normal folds and grooves and instead develops a bumpy, irregular appearance (like that of cobblestones). These individuals may also have a buildup of fluid in the brain (hydrocephalus) or abnormalities of certain parts of the brain, including a region called the cerebellum and the part of the brain that connects to the spinal cord (the brainstem). These changes in the structure of the brain lead to significantly delayed development and intellectual disability. Some individuals with Walker-Warburg syndrome experience seizures.
Eye abnormalities are also characteristic of Walker-Warburg syndrome. These can include unusually small eyeballs (microphthalmia), enlarged eyeballs caused by increased pressure in the eyes (buphthalmos), clouding of the lenses of the eyes (cataracts), and problems with the nerve that relays visual information from the eyes to the brain (the optic nerve). These eye problems lead to vision impairment in affected individuals.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Cerebroocular dysplasia-muscular dystrophy syndrome
Chemke syndrome
COD-MD syndrome
HARD syndrome
Hydrocephalus, agyria, and retinal dysplasia
MDDGA
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
Muscular dystrophy-dystroglycanopathy [with brain and eye anomalies], type A
Walker-Warburg congenital muscular dystrophy
Related patient information and medicines
Patient information leaflet
Pre-eclampsia
Rarely, pre-eclampsia and eclampsia can both develop for the first time up to four weeks after you h... This is called post natal pre-eclampsia. HELLP syndrome HELLP syndrome is a complication which occurs in women who have severe pre-eclampsia or eclampsia. It commonly occurs between 27 and 37 weeks of pregnancy but can occur any time from 20.
Patient information leaflet
Microvascular angina
There is no agreed definition for CSX. The underlying cause may be sudden narrowing (spasm) of normal coronary arteries without any evidence of atheromatous fatty plaques. What is cardiac syndrome X. Cardiac syndrome X (CSX) is thought to be a type of angina. In CSX chest pain is felt when the heart works harder but the heart arteries appear to be.
Patient information leaflet
Cervical rib
About 1 in 100 people are born with an extra rib called a cervical rib. About 1 in 10 people who have a cervical rib develop thoracic outlet syndrome. This happens if the cervical rib squashes the nerves and blood vessels going into the arm. Treatment can include painkillers, physiotherapy and sometimes surgery to relieve the compression caused.
Patient information leaflet
Greater trochanteric pain syndrome
Greater trochanteric pain syndrome is a condition that causes pain over the outside of the upper thigh (or both thighs) and hip. The cause is usually due to inflammation or injury to some of the tissues that lie over the bony prominence (the greater trochanter) at the top of the thigh bone (femur). Greater trochanteric pain syndrome can sometimes.
Patient information leaflet
Fetal anticonvulsant syndrome
Fetal anticonvulsant syndrome (FACS) - also known as fetal valproate syndrome and fetal hydantoin syndrome - is a group of malformations that can affect some babies if they are exposed to certain medicines known as antiepileptic drugs (AEDs) while in the womb. Most women with epilepsy will have a healthy child. Women with epilepsy who are pregnant.
Patient information leaflet
Wolff-Parkinson-White syndrome
Wolff-Parkinson-White syndrome is not common but can cause a fast heart rate or other heart rhythm abnormalities from time to time. Treatment can be given for the fast heart rate and also to prevent any further episodes. What is Wolff-Parkinson-White syndrome. In Wolff-Parkinson-White (WPW) syndrome there is an extra connection (an accessory.
Further reading and references
- Walker-Warburg syndrome; MedlinePlus, National Library of Medicine.
- Endo T. Glycobiology of alpha-dystroglycan and muscular dystrophy. J Biochem. 2015 Jan;157(1):1-12. doi: 10.1093/jb/mvu066. Epub 2014 Nov 7.
- Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain. 2007 Oct;130(Pt 10):2725-35. doi: 10.1093/brain/awm212. Epub 2007 Sep 18.
- Taniguchi-Ikeda M, Morioka I, Iijima K, Toda T. Mechanistic aspects of the formation of alpha-dystroglycan and therapeutic research for the treatment of alpha-dystroglycanopathy: A review. Mol Aspects Med. 2016 Oct;51:115-24. doi: 10.1016/j.mam.2016.07.003. Epub 2016 Jul 12.
- Vajsar J, Schachter H. Walker-Warburg syndrome. Orphanet J Rare Dis. 2006 Aug 3;1:29. doi: 10.1186/1750-1172-1-29.
- van Reeuwijk J, Brunner HG, van Bokhoven H. Glyc-O-genetics of Walker-Warburg syndrome. Clin Genet. 2005 Apr;67(4):281-9. doi: 10.1111/j.1399-0004.2004.00368.x.
- Yoshida-Moriguchi T, Yu L, Stalnaker SH, Davis S, Kunz S, Madson M, Oldstone MB, Schachter H, Wells L, Campbell KP. O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. Science. 2010 Jan 1;327(5961):88-92. doi: 10.1126/science.1180512.
Join the conversation
Share your thoughts or experiences with others in our patient communities.
Ask, share, connect.
Browse discussions, ask questions, and share experiences across hundreds of health topics.
Sign up to the Patient newsletter
Your weekly dose of clear, trustworthy health advice - written to help you feel informed, confident and in control.
By subscribing you accept our Privacy Policy. You can unsubscribe at any time. We never sell your data.