Wanninayake Subadra, Paisey Richard, Dabasia Hitesh, Cole Ashley, Dawson Charlotte, Hiwot Tarekegn
Department of Inherited Metabolic Disorders, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
Torbay and South Devon NHS Foundation Trust, Torquay, UK.
Orphanet J Rare Dis. 2025 Jul 17;20(1):367. doi: 10.1186/s13023-025-03867-1.
Alström syndrome (ALMS) is an ultra-rare metabolic disorder caused by biallelic loss-of-function in the Alms1 gene which encodes a ubiquitously expressed centrosomal protein of the primary cilium. Dual sensory defects, several metabolic and hormonal dysfunctions are frequent in ALMS. Increased musculoskeletal deformities have been observed, though these aspects have not been systematically reviewed. This study characterises the anthropometric, clinical, genetic and imaging features of bone deformities in a large UK cohort with ALMS and describes the details of first documented successful corrective surgery for scoliosis.
A preliminary study of 13 Alström patients was undertaken to evaluate musculoskeletal deformities. Written consent was obtained after sharing of study information via voice mail or Braille. Questionnaires, clinical examination and radiological evaluations were conducted twice 12 months apart by a rheumatologist and an orthopaedic surgeon. Two patients had scoliosis which required intervention. To discover its prevalence, 42 further AS patients were reviewed. All patients attended the Alstom syndrome UK specialist clinics.
In the detailed survey of 13 patients, all had some degree of musculoskeletal deformities, most commonly partially correctable thoracic kyphosis, brachydactyly, femoral anteversion and pes planus but rarely affecting their daily functioning. In the larger group of 55 patients, 6 had scoliosis requiring intervention; two of whom had spinal deformity requiring surgical correction in adolescence, and one had cervical spine surgery for spondylitis.
ALMS patients tend to have high prevalence of musculoskeletal deformities which may be part of the ciliopathy. Postural adaptation to dual sensory loss resulted in correctable kyphosis, treatable by physiotherapy. Scoliosis requiring intervention is frequent (10.9%), with successful surgery undertaken where indicated.
阿尔斯特伦综合征（ALMS）是一种极为罕见的代谢紊乱疾病，由Alms1基因的双等位基因功能丧失引起，该基因编码一种在初级纤毛中普遍表达的中心体蛋白。双感觉缺陷、多种代谢和激素功能障碍在ALMS中很常见。虽然已经观察到肌肉骨骼畸形增加，但这些方面尚未得到系统综述。本研究描述了英国一个大型ALMS队列中骨畸形的人体测量、临床、遗传和影像学特征，并介绍了首例有记录的成功脊柱侧弯矫正手术的细节。
对13名阿尔斯特伦患者进行了初步研究，以评估肌肉骨骼畸形。通过语音邮件或盲文分享研究信息后获得书面同意。由风湿病学家和骨科医生每隔12个月进行两次问卷调查、临床检查和放射学评估。两名患者患有需要干预的脊柱侧弯。为了发现其患病率，又对42名ALMS患者进行了复查。所有患者均在英国阿尔斯特伦综合征专科诊所就诊。
在对13名患者的详细调查中，所有人都有一定程度的肌肉骨骼畸形，最常见的是部分可矫正的胸椎后凸、短指畸形、股骨前倾和平足，但很少影响他们的日常功能。在55名患者的较大队列中，6人患有需要干预的脊柱侧弯；其中两人在青春期有需要手术矫正的脊柱畸形，一人因脊柱炎接受了颈椎手术。
ALMS患者肌肉骨骼畸形的患病率往往较高，这可能是纤毛病的一部分。对双感觉丧失的姿势适应导致可矫正的后凸畸形，可通过物理治疗。需要干预的脊柱侧弯很常见（10.9%），在有指征的情况下进行了成功的手术。
