Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype

Dai, Shenhao; Dieterich, Klaus; Jaeger, Marie; Wuyam, Bernard; Jouk, Pierre‐Simon; Pérennou, Dominic

doi:10.1212/wnl.0000000000005418

Cited by 26 publications

(52 citation statements)

References 21 publications

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“…These studies suggest that some sort of ambulation is important, especially in the home. The most preferred indoor mobility is walking either independently or with gait aids, however, outdoor mobility is often using wheelchairs or scooters (Dai et al, ; Steen et al, ). The need for ambulation within the home means that the emphasis during childhood to obtain functional foot, knee, and hip positioning for minimal standing and walking is desired.…”

Section: Discussionmentioning

confidence: 99%

“…People with AMC, as they get older, experience significant chronic pain (Jones, Miller, Street, & Sawatzky, ). Thirty‐nine out of 43 people with AMC had chronic pain in Dai et al's study (Dai et al, ). They also reported that 34% felt chronic fatigue and 43% experienced anxiety, both of which may be a result of chronic pain.…”

Section: Discussionmentioning

confidence: 99%

“…This study did not use any specific outcome measures of function for their analyses but was descriptive in nature. More recently, studies were published on adults with AMC, with studies from Germany (Dai et al, ), Norway (Steen, Wekre, & Vollestad, ) and Canada (Nouraei, Sawatzky, MacGillivray, & Hall, ). These studies mention that adults with AMC live predominantly independently, with 75–85% of participants working or going to school completely independently or partially dependent (with showers/dressing).…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

The relationship between joint surgery and quality of life in adults with arthrogryposis: An international study

Sawatzky

Jones

Miller

et al. 2019

American J of Med Genetics Pt C

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Individuals with Arthrogryposis Multiplex Congenita (AMC) are born with multiple joint contractures in multiple body areas, typically manifested as clubfeet, extended or flexed knees and/or elbows, and internal shoulder rotation, and clasped hands.They require multiple surgeries as children, but there is little data that reports their aging and future quality of life (QOL). This study describes the relationship between AMC-related surgically-managed joints in childhood and adulthood, and QOL as adults. Participants (n = 83) from 14 countries completed an online questionnaire followed by a telephone/Skype interview as adults. Data points collected regarding total number of surgeries, affected joints, country of origin, sex, age, and SF-36's Physical Capacity Score (PCS) for QOL were analyzed using a beta regression model to explore which factors may potentially influence adult QOL. The average number of surgeries per participant was 9.8, with at least 50% performed during childhood. 78, 45, and 31% of participants had foot, knee, and hip surgeries, respectively. The model demonstrated that knee and/or shoulder surgeries were more likely to have a negative correlation with PCS; elbow surgery, however, showed a positive correlation, as elbow function may impact independent function. However, future expansion of this data set to a longitudinal registry would provide better ongoing surgery-specific data. K E Y W O R D S adults, Arthrogryposis, quality of life, surgery

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

The relationship between joint surgery and quality of life in adults with arthrogryposis: An international study

Sawatzky

Jones

Miller

et al. 2019

American J of Med Genetics Pt C

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“…It is uncertain whether the respiratory complications are age‐dependent. Beals and Weleber () gave a detailed account in a large case series of four generations of a single family with DA5 with pulmonary issues, where some patients had severe mixed obstructive‐restrictive pulmonary dysfunction, and even decreased pulmonary function from a young age whom eventually required BiPAP at night, however, these reports mention cases severe enough to necessitate a tracheostomy (Dai et al, ). The restrictive pulmonary problems could be aggravated because of vertebral malalignment (Dai et al, ; Okubo et al, ).…”

Section: Discussionmentioning

confidence: 99%

Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family

Zapata‐Aldana

Almobarak

Karp

et al. 2019

American J of Med Genetics Pt A

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The group of distal arthrogryposis (DA) disorders is characterized by congenital contractures of the distal joints. In most instances, these are genetic disorders are inherited in an autosomal dominant fashion; however, there is wide genetic and phenotypic spectrum. Distal arthrogryposis type 5 (DA5) is clinically characterized by short stature, deep‐set eyes, ptosis, ophthalmoplegia, triangular facies, restrictive pulmonary function, and “firm” muscles. DA5 is produced by a gain‐of‐function mutations in PIEZO2 gene, encoding for an ion‐channel required to convert mechanical stimulus to biological signals in mammals essential to proprioception. Heterozygous mutations in PIEZO2 may lead to other phenotypes like Gordon Syndrome and Marden Walker syndrome. In this report, we present a 3‐generation family affected with DA5, who all carry a variant of unknown clinical significance c.8068A>C (p.Ser2690Arg) in the PIEZO2 gene. DA5 is a very rare condition with less than 20 cases previously reported. Our report expands the phenotype and contributes to evidence of this variant's pathogenicity.

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“…Following the first two symposia, there was agreement that emphasis should be placed on collecting information about the natural history into adulthood on each disorder, and to develop mechanisms for evaluation, classification, and utilizing consistent procedures. Since then, progress was made in gaining a better understanding of outcomes in adults with AMC (Dai et al, ; Nouraei, Sawatzky, MacGillivray, & Hall, ) and a pain and disability index was validated for adults with AMC (Jones, Miller, Street, & Sawatzky, ). In addition, a research platform for children with AMC in North America (Dahan‐Oliel et al, ) and an international longitudinal registry for adults were funded in 2017 and data collection is currently underway (Sawatzky et al, ).…”

Section: Introductionmentioning

confidence: 99%

Summary of the 3rd international symposium on arthrogryposis

Dahan‐Oliel

Hall

Samargian³

et al. 2019

American J of Med Genetics Pt C

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The 1st international symposium on arthrogryposis (ISA) was held in 2007 in Birmingham, UK, to bring together a multinational group of experts in the field of arthrogryposis, patients and their families to discuss various aspects of care for individuals with Arthrogryposis Multiplex Congenita (AMC). These "lessons learnt" set the tone for the 2nd ISA held in Saint Petersburg, Russia in 2014. Clinical and research advances have recently been made in the field of arthrogryposis and were shared at the 3rd ISA, in Philadelphia, in 2018. Highlights of the 3ISA and future directions are presented. K E Y W O R D S arthrogryposis, assessment tools, conference, consensus, multidisciplinary approach

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Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype

Abstract: This study describes disability patterns of a cohort of adults with AMC by genotype. The disability of adults with AMC is influenced by genotype, with important invisible disability.

Cited by 26 publications

References 21 publications

The relationship between joint surgery and quality of life in adults with arthrogryposis: An international study

The relationship between joint surgery and quality of life in adults with arthrogryposis: An international study

Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family

Summary of the 3rd international symposium on arthrogryposis

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