Amyoplasia involving only the upper limbs or only involving the lower limbs with review of the relevant differential diagnoses

Hall, Judith G.

doi:10.1002/ajmg.a.36397

Cited by 20 publications

(16 citation statements)

References 92 publications

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“…In such cases, amyoplasia is typically limited to either the upper or lower limbs. 51 In a small subset of such families with lower limb amyoplasia (LLA), pathogenic variants have been found in one of several genes including BICD2, 52 CACNA1H, 53 DYNC1H1, 54 TRPV4, 55 and FKBP10. 56 In each of the LLA conditions resulting from pathogenic variants in these genes, neurological abnormalities including weakness and hypotonia are typically present, distinguishing them from DA1 due to MYLPF variants.…”

Section: Discussionmentioning

confidence: 99%

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

Chong

Talbot

Teets

et al. 2020

The American Journal of Human Genetics

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We identified ten persons in six consanguineous families with distal arthrogryposis (DA) who had congenital contractures, scoliosis, and short stature. Exome sequencing revealed that each affected person was homozygous for one of two different rare variants (c.470G>T [p.Cys157Phe] or c.469T>C [p.Cys157Arg]) affecting the same residue of myosin light chain, phosphorylatable, fast skeletal muscle (MYLPF). In a seventh family, a c.487G>A (p.Gly163Ser) variant in MYLPF arose de novo in a father, who transmitted it to his son. In an eighth family comprised of seven individuals with dominantly inherited DA, a c.98C>T (p.Ala33Val) variant segregated in all four persons tested. Variants in MYLPF underlie both dominant and recessively inherited DA. Mylpf protein models suggest that the residues associated with dominant DA interact with myosin whereas the residues altered in families with recessive DA only indirectly impair this interaction. Pathological and histological exam of a foot amputated from an affected child revealed complete absence of skeletal muscle (i.e., segmental amyoplasia). To investigate the mechanism for this finding, we generated an animal model for partial MYLPF impairment by knocking out zebrafish mylpfa. The mylpfa mutant had reduced trunk contractile force and complete pectoral fin paralysis, demonstrating that mylpf impairment most severely affects limb movement. mylpfa mutant muscle weakness was most pronounced in an appendicular muscle and was explained by reduced myosin activity and fiber degeneration. Collectively, our findings demonstrate that partial loss of MYLPF function can lead to congenital contractures, likely as a result of degeneration of skeletal muscle in the distal limb.

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Section: Discussionmentioning

confidence: 99%

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

Chong

Talbot

Teets

et al. 2020

The American Journal of Human Genetics

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“…Only 85 cases have been identii ed in literature, and there are no published cases from the Philippines (Pubmed, Cochrane, EMBASE, grey literature, ie, review of medical records, an inquiry from other training institutions). [7] Aside from the rare occurrence of lower limb amyoplasia, our patient also presented with two uncommon features within this patient group: severe scoliosis and large, deep skin dimpling located in an unusual area.…”

Section: Discussionmentioning

confidence: 62%

Lower Limb Amyoplasia in a Filipino Female: A Case Report and a Review of the Literature

Evangelista¹,

Braganza²,

Estillore³

et al. 2019

jmust

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Amyoplasia is the most common form of arthrogryposis (multiple congenital contracture). It has an estimated incidence of one in 10,000 live births. Lower limb-amyoplasia is a specii c subtype with an estimated incidence of 1 in 75,000-100,000 live births. There are only 85 cases of lower limb amyoplasia identii ed in literature, and there are no published cases from the Philippines. We discuss a rare case of lower limb amyoplasia in an 11-year-old Filipino female presenting with additional unique features of severe scoliosis (managed with spine correction surgery) and multiple skin dimples in the gluteal area. The study was performed according to the CARE guidelines for case reports.

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“…The most prevalent type of AMC, however, is amyoplasia accounting for 1/3 of all cases of MCC. Amyoplasia is a specific disorder, recognizable by specific limb positioning, affecting all or only upper or lower limbs, with normal sensation, and a specific natural history (Hall, Aldinger & Tanaka, ; Hall, , ; Hall, Reed, & Driscoll, ). Its occurrence is sporadic, possibly of vascular and/or hypoxic etiology in the first or early second trimester; all attempts to identify a genetic etiology have failed so far.…”

Section: Introductionmentioning

confidence: 99%

Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management

Filges

Tercanli

Hall

2019

American J of Med Genetics Pt C

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Antenatal identification of fetuses with multiple congenital contractures or arthrogryposis multiplex congenita (AMC) may be challenging. The first clinical sign is often reduced fetal movement and/or contractures, as seen on prenatal ultrasounds. This can be apparent at any point, from early to late pregnancy, may range from mild to severe involvement, with or without associated other structural anomalies. Possible etiologies and their prognosis need to be interpreted with respect to developmental timing. The etiology of AMC is highly heterogeneous and making the specific diagnosis will guide prognosis, counseling and prenatal and perinatal management. Current ultrasound practice identifies only approximately 25% of individuals with arthrogryposis prenatally before 24 weeks of pregnancy in a general obstetrics care population. There are currently no studies and guidelines that address the question of when and how to assess for fetal contractures and movements during pregnancy. The failure to identify fetuses with arthrogryposis before 24 weeks of pregnancy means that physicians and families are denied reproductive options and interventions that may improve outcome. We review current practice and recommend adjusting the current prenatal imaging and genetic diagnostic strategies to achieve early prenatal detection and etiologic diagnosis. We suggest exploring options for in utero therapy to increase fetal movement for ongoing pregnancies.

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Amyoplasia involving only the upper limbs or only involving the lower limbs with review of the relevant differential diagnoses

Cited by 20 publications

References 92 publications

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

Lower Limb Amyoplasia in a Filipino Female: A Case Report and a Review of the Literature

Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management

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