title: Muscle involvement and motor function in amyoplasia.
abstract: The most common form of arthrogryposis multiplex congenita (AMC) is amyoplasia. Diagnostic criteria are highly specific, with decreased muscle mass, typical contractures and limb positioning at birth. Intellectual development is normal. The aims of this study were to investigate how muscle strength and contractures affect motor function in amyoplasia, and to relate current functional status to joint positions at birth. Medical records were reviewed and a clinical examination was performed, with investigation of muscle strength, range of motion, and motor function. Thirty-five patients with amyoplasia participated and were divided into three functional groups: 11 community ambulators, 11 household ambulators, and 7 non-ambulators. Six children less than 2 years old were not categorized. Community ambulators had the best muscle strength and none had knee flexion contractures extending 20 degrees. Household ambulators had severe contractures in the lower limbs, but good muscle strength in the upper limbs. Non-ambulators had most severe contractures and most severely reduced muscle strength. Most of the non-ambulators were born with hips in severe abduction, flexion and external rotation. Good and very good correlations were found between muscle strength and motor function, and only moderate correlations between range of motion and motor function. We conclude that more attention should be paid to developing muscle strength, with early stimulation of active movement, and that periods of immobilization should be minimized. Further, ultrasound or MRI of muscle tissue in the newborn period would be useful to evaluate prerequisites for future development of muscle strength and thereby anticipate response to therapy.
authors.affiliation: Department of Pediatrics, Institute for the Health of Women and Children, Sahlgrenska Academy at Göteborg University, Göteborg, Sweden. anna-karin.kroksmark@vgregion.se
authors.forename: Anna-Karin
authors.initials: AK
authors.lastname: Kroksmark
authors.forename: Eva
authors.initials: E
authors.lastname: Kimber
authors.forename: Ragnar
authors.initials: R
authors.lastname: Jerre
authors.forename: Eva
authors.initials: E
authors.lastname: Beckung
authors.forename: Mar
authors.initials: M
authors.lastname: Tulinius
mesh_terms: D000293:Adolescent; D000328:Adult; D001176:Arthrogryposis / Q000175:diagnosis / Q000503:physiopathology* / Q000534:rehabilitation; D002648:Child; D002675:Child, Preschool; D003286:Contracture / Q000209:etiology / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D007537:Isometric Contraction; D008297:Male; D009043:Motor Activity; D018482:Muscle, Skeletal / Q000503:physiopathology*; D016059:Range of Motion, Articular; D016138:Walking / Q000706:statistics & numerical data