Muscle involvement and motor function in amyoplasia

American Journal of Medical Genetics, Part A - Tập 140A Số 16 - Trang 1757-1767 - 2006
Anna‐Karin Kroksmark1, Eva Kimber2, Ragnar Jerre3, Eva Beckung1, M. Tulinius1
1Department of Pediatrics, Institute for the Health of Women and Children, Sahlgrenska Academy at Göteborg University, Göteborg, Sweden
2Department of Neuropediatrics, Uppsala University Children's Hospital, Uppsala, Sweden
3Department of Orthopedics, Sahlgrenska University Hospital, Göteborg, Sweden

Tóm tắt

AbstractThe 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. © 2006 Wiley‐Liss, Inc.

Từ khóa


Tài liệu tham khảo

Altman DG, 1991, Practical statistics for medical research, 404

Carlson WO, 1985, Arthrogryposis multiplex congenita. A long‐term follow‐up study, Clin Orthop Relat Res, 194, 115, 10.1097/00003086-198504000-00016

10.1067/mpd.2002.121148

Dubowitz V, 1995, Muscle disorders in childhood, 473

Hahn G, 1985, Arthrogryposis. Pediatric review and habilitative aspects, Clin Orthop Relat Res, 194, 104, 10.1097/00003086-198504000-00015

10.1097/01202412-199707000-00002

10.1002/ajmg.1320150407

10.1097/01241398-198307000-00004

10.1053/ejpn.2001.0510

10.1111/j.1469-8749.2005.tb01175.x

10.1097/01202412-199707000-00006

Nyström EM, 2006, Isometric muscle tourqe in children 5‐15 years—Normative data, Arch Phys Med Rehabil

Palmer PM, 1985, Passive motion therapy for infants with arthrogryposis, Clin Orthop Relat Res, 194, 54, 10.1097/00003086-198504000-00007

10.1002/ajmg.1320240415

10.1002/mus.880050405

10.1542/peds.97.2.225

10.1097/01202412-199707000-00003

Thomas B, 1985, The knee in arthrogryposis, Clin Orthop Relat Res, 194, 87, 10.1097/00003086-198504000-00012

10.1097/01202412-199707000-00004

Thông tin
Thông tin xuất bản

American Journal of Medical Genetics, Part A

Tập 140A Số 16

1757-1767

Thông tin tác giả