About 955 results

ALLMedicine™ Arthrogryposis Center

Research & Reviews  370 results

Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.
Clinical Genetics; Marconi C, Lemmens L et. al.

May 26th, 2021 - Arthrogryposis describes the presence of multiple joint-contractures. Clinical severity of this phenotype is variable, and more than 400 causative genes have been proposed. Among these, ERGIC1 is a recently reported candidate encoding a putative t...

A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome,...
Ophthalmic Genetics; Godfrey D, Torres A et. al.

May 5th, 2021 - Background: Duane retraction syndrome and arthrogryposis multiplex congenita have an incidence of approximately 1:1500-1:3000 live births. However, the association of these two entities with a Marcus-Gunn might be a rare and, until now, under-reco...

Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotyp...
American Journal of Medical Genetics. Part A; Rosano KK, Wegner DJ et. al.

May 1st, 2021 - Spinal muscular atrophy with congenital bone fractures 2 (SMABF2), a type of arthrogryposis multiplex congenita (AMC), is characterized by congenital joint contractures, prenatal fractures of long bones, and respiratory distress and results from b...

Fast skeletal myosin-binding protein-C regulates fast skeletal muscle contraction.
https://doi.org/10.1073/pnas.2003596118 10.1096/fj.201800624R
Proceedings of the National Academy of Sciences of the Un... Song T, McNamara JW et. al.

Apr 23rd, 2021 - Fast skeletal myosin-binding protein-C (fMyBP-C) is one of three MyBP-C paralogs and is predominantly expressed in fast skeletal muscle. Mutations in the gene that encodes fMyBP-C, MYBPC2, are associated with distal arthrogryposis, while loss of f...

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Brain : a Journal of Neurology; Vetro A, Nielsen HN et. al.

Apr 21st, 2021 - Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms of the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia of childhood (ATP1A2/A...

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Drugs  5 results see all →

News  6 results

Zika-linked birth defects climbing in U.S. hot spots
M. Alexander Otto

Jan 25th, 2018 - The prevalence of birth defects strongly linked with congenital Zika virus infection increased 21% from the first to the second half of 2016 in areas of the United States with local, endemic transmission: Puerto Rico, south Florida, and southern T.

Eye Problems Independent of Microcephaly in Zika Babies (JAMA Pediatrics)

Jul 17th, 2017 - Over 40% of infants with an abnormal eye examination who were born to mothers with evidence of Zika infection did not have microcephaly, a small case series found. Researchers writing in JAMA Pediatrics argued that eye abnormalities may be the onl...

Recognizing Congenital Zika Syndrome

Jan 3rd, 2017 - VANCOUVER—Infants infected with Zika virus in utero may develop a syndrome characterized by brain volume loss, intracerebral calcifications, and spasticity. They may develop dyskinesia or seizures after several months, and a subset of children has.

Arthrogryposis Associated With Zika Infection In Utero

Aug 14th, 2016 - Arthrogryposis in infants can be associated with congenital Zika virus infection, according to a new retrospective case series published in the BMJ. Arthrogryposis is characterized by joint contractures at birth and has been described in patients ...

Study evaluates Zika syndrome with joint contractures
Doug Brunk

Aug 9th, 2016 - Congenital Zika syndrome should be added to the differential diagnosis of congenital infections and arthrogryposis (joint contractures), results from a case series study in Brazil suggest. “Brain impairment in the presence of microcephaly is the m.

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Patient Education  1 results see all →