Lethal Congenital Muscular Dystrophy in Two Sibs with Arthrogryposis Multiplex: New Entity or Variant of Cobblestone Lissencephaly Syndrome?

Seidahmed, Mohammed Zain; Sunada, Yoshihide; Ozo, C. O.; Hamid, Farzana; Campbell, K. P.; Salih, Mustafa A.

doi:10.1055/s-2007-973799

Cited by 21 publications

(9 citation statements)

References 6 publications

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“…Clinical features of arthrogryposis can also be observed in mutations of genes responsible for the troponin and actinin complex synthesis (troponin I, α-actinin 3) or mitochondrial cytopathy [ 41 – 43 ].…”

Section: Etiologymentioning

confidence: 99%

Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies

Kowalczyk¹,

Feluś²

2016

aoms

106

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Arthrogryposes – multiple joint contractures – are a clinically and etiologically heterogeneous class of diseases, where accurate diagnosis, recognition of the underlying pathology and classification are of key importance for the prognosis as well as for selection of appropriate management. This treatment remains challenging and optimally in arthrogrypotic patients should be carried out by a team of specialists familiar with all aspects of arthrogryposis pathology and treatment modalities: rehabilitation, orthotics and surgery. In this comprehensive review article, based on literature and clinical experience, the authors present an update on current knowledge on etiology, classifications and treatment options for skeletal deformations possible in arthrogryposis.

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Section: Etiologymentioning

confidence: 99%

Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies

Kowalczyk¹,

Feluś²

2016

aoms

106

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“…These include central core disease, nemaline myopathy, intranuclear rod myopathy, and many other types of congenital myopathies [1, 29, 30] caused by a mutation in the gene encoding for sarcomeric thin filament protein troponin I [31] or a deficiency of α -actinin-3 [32]. Congenital muscular dystrophies (1–10000 live births) are the result of abnormal function of the dystrophin-glycoprotein-associated complex in the sarcolemma of skeletal muscles [1].…”

Section: Arthrogryposis Multiplex Congenital (Amc)mentioning

confidence: 99%

Diagnosing Arthrogryposis Multiplex Congenita: A Review

Kalampokas

Sofoudis

et al. 2012

ISRN Obstetrics and Gynecology

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Arthrogryposis multiplex congenita (AMC) refers either to a syndromic or to a nonsyndromic group of conditions with varied etiology and complex clinical features, including multiple congenital contractures in different body areas. Its etiology still remains unclear but generally any cause that leads to reduced fetal movement may lead to congenital contractures and in severe cases to fetal akinesia deformation sequence (FADS). It affects approximately 1 in 2-3000 live births with an approximately equal gender ratio. There are many known subgroups of AMC differing in signs, symptoms, and causes. The primary diagnosis is made when a lack of mobility and an abnormal position is noted in routine ultrasound scanning. Early diagnosis, prenatal evaluation, and further surveillance via image scanning (ultrasound and MRI) give the opportunity for family counseling concerning neonatal morbidity and mortality and labor or delivery planning. Better understanding of the ultrasound findings and the etiology of this clinical situation offers the opportunity for careful prenatal assessment.

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“…Even so, the genetic etiology remains undefined in about 30% of cases [4]. Due to the autosomal recessive inheritance pattern, reports of siblings with WWS occur; however our patient's twin brother was unaffected [5, 6]. …”

Section: Discussionmentioning

confidence: 94%

A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome

Tanaka

Harris

Barnett

et al. 2016

Case Reports in Neurological Medicine

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Walker-Warburg syndrome (WWS) is a rare autosomal recessive congenital muscular dystrophy with brain malformations and ocular abnormalities that falls under the wider phenotypic spectrum of the dystroglycanopathies. Mutations in a number of genes including POMT1, POMT2, POMGNT1, POMGNT2, FKTN, FKRP, LARGE, and ISPD are known to cause alpha dystroglycan-related muscular dystrophy. Mutations in these genes result in a broad phenotypic spectrum ranging from the severe WWS to a mild congenital muscular dystrophy with no brain involvement. WWS is fatal to most patients early in life with mean survival of 9 months. The most common brain finding is cobblestone lissencephaly with the vast majority of patients (97%) also having ventricular dilation with or without hydrocephalus. Surgical treatment has not been frequently detailed. This report describes our successful treatment of a patient with WWS and hydrocephalus with Endoscopic Third Ventriculostomy (ETV) with choroid plexus cauterization (CPC). Fourteen months following treatment, a follow-up MRI CSF flow study demonstrated robust CSF flow through floor of third ventricle from interpeduncular cistern to lateral ventricle.

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Lethal Congenital Muscular Dystrophy in Two Sibs with Arthrogryposis Multiplex: New Entity or Variant of Cobblestone Lissencephaly Syndrome?

Cited by 21 publications

References 6 publications

Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies

Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies

Diagnosing Arthrogryposis Multiplex Congenita: A Review

A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome

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