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Related Experiment Videos

Nonspinal orthopaedic problems in familial dysautonomia (Riley-Day syndrome).

F J Laplaza1, T Turajane, F B Axelrod

  • 1Pediatric Orthopaedics, Hospital for Special Surgery, New York, New York 10021, USA. laplazaf@hss.edu

Journal of Pediatric Orthopedics
|March 10, 2001
PubMed
Summary

Familial dysautonomia (FD) patients experience a higher rate of fractures and neuropathic joints. This study highlights unique orthopedic conditions, including a greater incidence of proximal femoral fractures in individuals with FD.

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Area of Science:

  • Orthopedics
  • Genetics
  • Neurology

Background:

  • Familial dysautonomia (FD) is a rare, autosomal recessive genetic disorder.
  • FD impacts the autonomic, central, and peripheral nervous systems.
  • The disease predominantly affects individuals of Ashkenazi Jewish descent.

Purpose of the Study:

  • To determine the prevalence and characteristics of orthopedic deformities in patients with Familial dysautonomia.
  • To investigate conditions beyond spinal deformities in this population.
  • To identify specific orthopedic challenges faced by individuals with FD.

Main Methods:

  • Retrospective review of medical records and radiographs.
  • Analysis of 182 patients diagnosed with Familial dysautonomia.

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  • Evaluation of fractures, neuropathic joints, and other musculoskeletal deformities.

    • Main Results:

    • 60% of patients experienced one or more fractures, with an average rate of 1.4 fractures per patient.
    • 11% of patients had neuropathic joints, most commonly affecting the knee.
    • 26% presented with other musculoskeletal deformities, primarily lower extremity rotational issues and foot anomalies.
    • A higher incidence of proximal femoral fractures was observed compared to the general population.

    Conclusions:

    • Patients with Familial dysautonomia exhibit an increased prevalence of fractures and neuropathic joints.
    • The fracture patterns in FD patients differ, with a notable rise in proximal femoral fractures.
    • Orthopedic assessment is crucial for managing the diverse musculoskeletal manifestations of FD.