From the Service de Rééducation Neurologique, Institut de Rééducation Hôpital Sud (S.D., M.J., D.P.), and Département Thoracique et Vasculaire, Laboratoire Sommeil & Exercice (B.W.), Hôpital Universitaire Grenoble-Alpes; Laboratoire de Psychologie et Neurocognition (LPNC), CNRS (S.D., D.P.), INSERM, Grenoble Institut des Neurosciences (GIN) (K.D., D.P.), INSERM, HP2 Laboratory (B.W.), and TIMC-IMAG, CNRS (P.-S.J.), Universitaire Grenoble Alpes; and Service de Génétique Clinique (K.D., P.-S.J.), Hôpital Couple Enfant, CHU Grenoble Alpes, Grenoble, France.
Neurology. 2018 May 1;90(18):e1596-e1604. doi: 10.1212/WNL.0000000000005418. Epub 2018 Apr 6.
To understand the disability of adults with arthrogryposis multiplex congenita (AMC), a rare disease spectrum characterized by at least 2 joint contractures at birth in different body areas.
This is a retrospective analysis of data for unselected persons with AMC referred to the French center for adults with AMC from 2010 to 2016. All underwent a pluriprofessional systematic and comprehensive investigation of deficits, activity limitation, and participation restriction according to the International Classification of Functioning, Disability and Health and genetic analysis when indicated. Participants were divided by amyoplasia and other AMC types.
Mean (SD) age of the 43 participants (27 female) was 33.2 (13.4) years; 28 had amyoplasia and 15 other types of AMC. Beyond joint stiffness, deformities, and muscle weakness, the well-known core symptoms that we quantified and for which first-line treatment involved technical aids, other less visible disorders that could contribute to severe participation restriction were particularly pain and psychological problems including anxiety, fatigue, difficulty in sexual life, altered self-esteem, and feelings of solitude. Severe respiratory disorders were infrequent and were linked to mutations. Gait disorders were not due to respiratory impairment but to skeletal problems and were always associated with amyoplasia when severe. Functional independence was worse but respiratory and swallowing capacities were better with amyoplasia than other AMC types.
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.
了解先天性多发性关节挛缩症（AMC）患者的残疾情况，AMC 是一种罕见的疾病谱，其特征是在不同身体部位至少有 2 个关节先天性挛缩。
这是对 2010 年至 2016 年期间，法国成人 AMC 中心收治的未选择的 AMC 患者进行的回顾性数据分析。所有患者均根据国际功能、残疾和健康分类进行了多专业系统和全面的缺陷、活动受限和参与受限调查，并在需要时进行遗传分析。参与者根据无肌病型和其他 AMC 类型进行分组。
43 名参与者（27 名女性）的平均（SD）年龄为 33.2（13.4）岁；28 名患者为无肌病型，15 名患者为其他类型的 AMC。除了关节僵硬、畸形和肌肉无力等众所周知的核心症状外，我们还量化了其他一些不太明显的可能导致严重参与受限的疾病，包括疼痛和心理问题，如焦虑、疲劳、性生活困难、自尊心改变和孤独感。严重的呼吸障碍很少见，与 突变有关。步态障碍不是由于呼吸损害引起的，而是由于骨骼问题引起的，当严重时总是与无肌病型相关。无肌病型的功能独立性较差，但呼吸和吞咽能力较好。
本研究通过基因型描述了一组成人 AMC 患者的残疾模式。成人 AMC 的残疾情况受基因型影响，存在严重的隐形残疾。
