Amyoplasia, the Most Common Type of Arthrogryposis: The Potential for Good Outcome

Sells, Jill M.; Jaffe, Kenneth M.; Hall, Judith G.

doi:10.1542/peds.97.2.225

Cited by 121 publications

(18 citation statements)

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“…The diagnostic criteria for amyoplasia are highly specific, with decreased muscle mass, typical joint contractures, and limb positioning at birth, mostly symmetrical in all four limbs. There may be involvement only of the lower limbs or, less commonly, only of the upper limbs and asymmetric limb involvement [1, 33]. Typically, the shoulders are adducted and internally rotated, and the elbows are extended with the forearms pronated and wrists and fingers flexed.…”

Section: Amyoplasiamentioning

confidence: 99%

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AMC: Amyoplasia and distal arthrogryposis

Kimber¹

2015

Journal of Children's Orthopaedics

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Arthrogryposis multiplex congenita (AMC) is a heterogeneous condition defined as multiple congenital joint contractures in two or more body areas. The common pathogenesis is impaired fetal movements. Amyoplasia, the most frequent form, is a sporadically occurring condition with hypoplastic muscles and joint contractures. Distal arthrogryposis (DA) syndromes are often hereditary, and joint involvement is predominantly in the hands and feet. In a Swedish study, 131 patients with arthrogryposis were investigated. The most frequent diagnoses were amyoplasia and DA. In amyoplasia, muscle strength was found to be more important than joint range of motion (ROM) for motor function. In DA, muscle weakness was present in 44 % of investigated patients. The clinical findings were found to be highly variable between families and also within families with DA. Fetal myopathy due to sarcomeric protein dysfunction can cause DA. An early multidisciplinary team evaluation of the child with arthrogryposis for specific diagnosis and planning of treatment is recommended. Attention should be directed at the development of muscle strength with early stimulation of active movements. Immobilization should be minimized.

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Section: Amyoplasiamentioning

confidence: 99%

“…The feet are most often in an equinovarus adductus position, although other types of foot deformities occur. Involvement of the spine is also described [1, 33]. The contractures can be fixed or flexible.…”

Section: Amyoplasiamentioning

confidence: 99%

AMC: Amyoplasia and distal arthrogryposis

Kimber¹

2015

Journal of Children's Orthopaedics

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“…The involvement of upper extremities with inability of hand and arm support has also been found to influence walking function [10, 11]. Most children with AMC can achieve functional ambulation and 85% have been reported as ambulators by the age of 5 years, but for efficient community ambulation, a wheelchair may be required [3, 12, 13].…”

Section: Introductionmentioning

confidence: 99%

Gait in children with arthrogryposis multiplex congenita

Eriksson

Gutierrez-Farewik

Broström

et al. 2010

Journal of Children's Orthopaedics

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Purpose Lower limb contractures and muscle weakness are common in children with arthrogryposis multiplex congenita (AMC). To enhance or facilitate ambulation, orthoses may be used. The aim of this study was to describe gait pattern among individuals wearing their habitual orthotic devices. Methods Fifteen children with AMC, mean age 12.4 (4.3) years, with some lower limb involvement underwent 3-D gait analysis. Three groups were defined based on orthosis use; Group 1 used knee–ankle–foot orthoses with locked knee joints, Group 2 used ankle–foot orthoses or knee–ankle–foot orthoses with open knee joints and Group 3 used no orthoses. Results The greatest trunk and pelvis movements in all planes and the greatest hip abduction were observed in Group 1, compared to Groups 2 and 3, as well as to the gait laboratory control group. Maximum hip extension was similar in Groups 1 and 2, but in Group 3, there was less hip extension and large deviations from the control data. Lower cadence and walking speed were observed in Group 1 than in Groups 2 and 3. The step length was similar in all groups and also with respect to the gait laboratory reference values. Conclusions Children with AMC were subdivided according to orthoses use. Kinematic data as recorded with 3-D gait analysis showed differences among the groups in trunk, pelvis and knee kinematics, and in cadence and walking speed. The step length was similar in all groups and to the gait laboratory reference values, which may be attributable to good hip extension strength in all participants.

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“…Another small-scale study of 38 pediatric patients with amyoplasia found the rate of surgery to be 24% elbow, 16% wrist, 8% hand, 5% spine, 18% hip, 39% knee, and 76% feet with an average of 5.7 surgeries per child. 22 Our study of a larger population found a higher rate of upper extremity, spine, and hip surgery and a lower rate of knee and foot surgery in patients with amyoplasia. Additionally, our study found a lower average number of surgeries (1.9 total surgeries).…”

Section: Discussionmentioning

confidence: 50%

Arthrogryposis multiplex congenita: a 28‐year retrospective study

Wahlig

Poppino

et al. 2021

Develop Med Child Neuro

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Aim To identify all patients with arthrogryposis multiplex congenita presenting to a specialized pediatric orthopedic institution over a 28‐year period; classify them into three groups (general arthrogryposis not otherwise specified [NOS], amyoplasia, or distal arthrogryposis); report the frequency of various musculoskeletal features; and determine the rate of operative treatment. Method Patients with arthrogryposis under the age of 18 years who presented between 1990 and 2017 were included. Patients were placed into one of three groups based on clinical features and family history when available. Age of presentation, joint involvement, and utilization of surgical treatment were recorded. Results There were 417 patients in total (184 females, 233 males); 235 patients (56.4%) had general arthrogryposis NOS, 107 (25.7%) had amyoplasia, and 75 (18.0%) had distal arthrogryposis. Patients with amyoplasia presented at a younger age (median 4mo) than those with general arthrogryposis NOS (median 1y 3mo, p=0.005), and had a lower rate of spine involvement than patients with general arthrogryposis NOS (p=0.004) and distal arthrogryposis (p=0.023). The average number of surgeries across all patients was 1.9 (SD 2.2). Interpretation Pediatric patients with amyoplasia present to orthopedic care earlier and are less likely to have spine involvement than other forms of arthrogryposis. Multiple surgeries are common among all patients with arthrogryposis.

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Amyoplasia, the Most Common Type of Arthrogryposis: The Potential for Good Outcome

Cited by 121 publications

References 0 publications

AMC: Amyoplasia and distal arthrogryposis

AMC: Amyoplasia and distal arthrogryposis

Gait in children with arthrogryposis multiplex congenita

Arthrogryposis multiplex congenita: a 28‐year retrospective study

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