WordNet

an enclosing framework on casters or wheels; helps babies learn to walk (同)baby-walker, go-cart
a light enclosing framework (trade name Zimmer) with rubber castors or wheels and handles; helps invalids or the handicapped or the aged to walk (同)Zimmer, Zimmer frame
a shoe designed for comfortable walking
a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
German art historian (1866-1929) (同)Aby Warburg, Aby Moritz Warburg
German biochemist who pioneered the use of chemical techniques in biological investigations; noted for studies of cellular respiration (1883-1970) (同)Otto Heinrich Warburg
United States writer (born in 1944) (同)Alice Walker, Alice Malsenior Walker
New Zealand runner who in 1975 became the first person to run a mile in less that 3 minutes and 50 seconds (born in 1952) (同)John Walker

PrepTutorEJDIC

歩く人(物) / 歩行器
(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/08/26 05:31:08」(JST)

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Walker–Warburg syndrome (WWS), also called Warburg syndrome, Chemke syndrome, HARD syndrome (Hydrocephalus, Agyria and Retinal Dysplasia), Pagon syndrome, cerebroocular dysgenesis (COD) or cerebroocular dysplasia-muscular dystrophy syndrome (COD-MD),^[1] is a rare form of autosomal recessive congenital muscular dystrophy.^[2] It is associated with brain (lissencephaly, hydrocephalus, cerebellar malformations) and eye abnormalities. This condition has a worldwide distribution. The overall incidence is unknown but a survey in North-eastern Italy has reported an incidence rate of 1.2 per 100,000 live births. It is the most severe form of congenital muscular dystrophy with most children dying before the age of three years.

Characteristics

The clinical manifestations present at birth are generalized hypotonia, muscle weakness, developmental delay with mental retardation and occasional seizures. The congenital muscular dystrophy is characterized by hypoglycosylation of α-dystroglycan. Those born with the disease also experience severe ocular and brain defects. Half of all children with WWS are born with encephalocele, which is a gap in the skull that will not seal. The meninges of the brain protrude through this gap due to the neural tube failing to close during development. A malformation of the a baby's cerebellum is often a sign of this disease.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.^[3]

Cause and Genetics

Walker–Warburg syndrome has an autosomal recessive pattern of inheritance.

Several genes have been implicated in the etiology of Walker–Warburg syndrome,^[4] and others are as yet unknown. Several mutations were found in the protein O-Mannosyltransferase POMT1 and POMT2 genes, and one mutation was found in each of the fukutin and fukutin-related protein genes.

Diagnosis

Laboratory investigations usually show elevated creatine kinase, myopathic/dystrophic muscle pathology and altered α-dystroglycan. Antenatal diagnosis is possible in families with known mutations. Prenatal ultrasound may be helpful for diagnosis in families where the molecular defect is unknown.

Prognosis

No specific treatment is available. Management is only supportive and preventive. Those who are diagnosed with the disease often die within the first few months of life. Almost all children with the disease die by the age of three.^[5]

Eponym

WWS is named for Arthur Earl Walker and Mette Warburg (1926- ), a Danish Ophthalmologist.^[6]^[7]^[8] Its alternative names include Chemke’s syndrome and Pagon’s syndrome; named after Juan M. Chemke and Roberta A. Pagon.^[9]

References

^ Online 'Mendelian Inheritance in Man' (OMIM) 236670
^ Vajsar J, Schachter H (2006). "Walker–Warburg syndrome". Orphanet J Rare Dis. 1: 29. doi:10.1186/1750-1172-1-29. PMC 1553431. PMID 16887026.
^ Weiss, Thomas C.. "Walker-Warburg Syndrome - Facts and Information." 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). "Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker–Warburg syndrome". Am. J. Hum. Genet. 71 (5): 1033–43. doi:10.1086/342975. PMC 419999. PMID 12369018.
^ Vajsar J, Schachter H (2006). "Walker-Warburg syndrome". Orphanet J Rare Dis. 1: 29. doi:10.1186/1750-1172-1-29. PMC 1553431. PMID 16887026.
^ synd/1202 at Who Named It?
^ Walker AE (1942). "Lissencephaly". Archives of Neurology and Psychiatry. Chicago. 48: 13–29. doi:10.1001/archneurpsyc.1942.02290070023002.
^ Warburg M (March 1971). "The heterogeneity of microphthalmia in the mentally retarded". Birth Defects Orig. Artic. Ser. 7 (3): 136–54. PMID 4950916.
^ http://www.whonamedit.com/synd.cfm/1202.html

External links

HARD syndrome; Walker–Warburg syndrome; Chemke syndrome; COD (cerebroocular dysgenesis) at NIH's Office of Rare Diseases

UpToDate Contents

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1. 眼咽頭型、遠位型，および先天性筋ジストロフィー oculopharyngeal distal and congenital muscular dystrophies
2. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要 overview of peripheral nerve and muscle disorders causing hypotonia in the newborn
3. 神経管欠損症の超音波診断 ultrasound diagnosis of neural tube defects
4. 肢帯型筋ジストロフィー limb girdle muscular dystrophy
5. 神経管欠損および脳室拡大を除く中枢神経系異常の出生前診断 prenatal diagnosis of cns anomalies other than neural tube defects and ventriculomegaly

English Journal

Prenatal imaging diagnosis of cobblestone lissencephaly associated with Walker Warburg syndrome based on a specific sonographic pattern.

Lacalm A1, Nadaud B2, Massoud M3, Putoux A4, Buenerd A2, Gaucherand P3, Guibaud L1,3.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.Ultrasound Obstet Gynecol.2015 Aug 28. doi: 10.1002/uog.15735. [Epub ahead of print]
We report a specific sonographic cerebral pattern of cobblestone lissencephaly (CL) that has not been previously described. This pattern was encountered in four index cases and allowed prenatal diagnosis of CL associated with Walker-Warburg syndrome. The pattern included both an outer echogenic band
PMID 26315758

ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome.

Trkova M1, Krutilkova V2, Smetanova D2, Becvarova V2, Hlavova E2, Jencikova N2, Hodacova J2, Hnykova L2, Hroncova H2, Horacek J2, Stejskal D2.
European journal of medical genetics.Eur J Med Genet.2015 Aug;58(8):372-5. doi: 10.1016/j.ejmg.2015.05.004. Epub 2015 Jun 16.
Walker-Warburg syndrome (WWS) is a rare form of autosomal recessive, congenital muscular dystrophy that is associated with brain and eye anomalies. Several genes encoding proteins involved in abnormal α-dystroglycan glycosylation have been implicated in the aetiology of WWS, most recently the ISPD
PMID 26087224

Japanese Journal

Walker-Warburg Syndrome : Demonstration of Cerebellar Cysts with CISS Sequence

, , ,
Magnetic resonance in medical sciences : MRMS 11(2), 137-140, 2012-06-01
… Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by a triad of congenital muscular dystrophy, brain anomalies, and ocular abnormalities. …
NAID 10030799956

胎児期に脳瘤を指摘され, 出生後に Walker-Warburg 症候群と診断した1例

猪俣慶,田中聡,岩谷壮太,坂井仁美,溝渕雅巳,芳本誠司,中尾秀人
日本周産期・新生児医学会雑誌 = Journal of Japan Society of Perinatal and Neonatal Medicine 48(1), 101-105, 2012-05-20
NAID 10030647975

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リンク元	「ウォーカー・ワールブルグ症候群」「Walker-Warburg症候群」
関連記事	「walker」「Warburg」「syndrome」「Warburg syndrome」