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Musculoskeletal deformities in Behr syndrome.

L Copeliovitch1, K Katz, N Arbel

  • 1Orthopedic Unit and Department of Physiotherapy, Schneider Children's Medical Center of Israel, Petah Tiqva, Israel.

Journal of Pediatric Orthopedics
|July 4, 2001
PubMed
Summary

Behr syndrome, a rare genetic disorder, causes progressive muscle contractures and mobility issues in children. This study highlights the long-term musculoskeletal challenges and functional decline in affected individuals.

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Area of Science:

  • Neurology
  • Genetics
  • Orthopedics

Background:

  • Behr syndrome is a rare genetic disorder characterized by optic atrophy, ataxia, spasticity, intellectual disability, and sensory loss.
  • Musculoskeletal deformities, particularly progressive contractures, are a significant feature of Behr syndrome.

Purpose of the Study:

  • To investigate the musculoskeletal deformities and long-term functional outcomes in children with Behr syndrome.
  • To understand the progression of Behr syndrome and its impact on mobility.

Main Methods:

  • Retrospective analysis of 17 children diagnosed with Behr syndrome.
  • Detailed assessment of musculoskeletal deformities, surgical interventions, and long-term functional status.

Main Results:

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  • Progressive contractures, primarily in lower limb muscles (hip adductors, hamstrings, soleus), were observed in 70% of patients.
  • Surgical interventions were frequently required for the Achilles tendon, hamstrings, and adductor longus.
  • At an average age of 21.7 years, most patients experienced significant mobility limitations, with many being housebound or non-ambulatory.

Conclusions:

  • Behr syndrome leads to progressive musculoskeletal deformities and severe long-term functional impairment.
  • Early and ongoing management of contractures is crucial for optimizing outcomes in Behr syndrome patients.