# Musculoskeletal deformities of Alström syndrome-a review of 55 cases

## TL;DR

This study reviews musculoskeletal deformities in 55 patients with Alström syndrome, highlighting their prevalence and successful surgical interventions for scoliosis.

## Contribution

The study provides the first systematic review of musculoskeletal deformities in Alström syndrome and documents successful scoliosis surgery.

## Key findings

- Musculoskeletal deformities are common in Alström syndrome, including thoracic kyphosis and pes planus.
- Scoliosis requiring intervention occurs in 10.9% of patients, with successful surgical correction reported.
- Physiotherapy can treat correctable kyphosis resulting from postural adaptation to sensory loss.

## Abstract

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.

The online version contains supplementary material available at 10.1186/s13023-025-03867-1.