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Locomotor problems in infantile facioscapulohumeral muscular dystrophy. Retrospective study of 9 patients
F Shapiro1, L Specht, B R Korf
1Department of Orthopedic Surgery, Children's Hospital, Boston, MA 02115.
Insights
Infantile facioscapulohumeral muscular dystrophy (FSHD) causes significant orthopedic issues, including progressive muscle weakness and loss of walking ability by the second decade. Early bracing for lumbar lordosis is ineffective; management should focus on wheelchair-dependent patients.
Area of Science:
- Neurology
- Orthopedics
- Genetics
Background:
- Infantile facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic disorder.
- Early-onset FSHD presents with distinct clinical manifestations and progressive severity.
Purpose of the Study:
- To define the spectrum of orthopedic deformities in infantile FSHD.
- To describe the natural history and progression of motor deficits in these patients.
Main Methods:
- Retrospective case series analysis of 9 patients diagnosed with infantile FSHD.
- Clinical data review focusing on orthopedic manifestations, motor function, and audiological status.
Main Results:
- Facial diplegia was present from early infancy.
- Sensorineural hearing loss affected 8/9 patients, with onset around age 5.
- Progressive gait deterioration, primarily due to gluteus maximus weakness, led to loss of ambulation in the second decade.
- Characteristic deformities included scapular winging, severe lumbar lordosis, and foot drop.
- Bracing for lumbar lordosis was ineffective during the ambulatory phase.
Conclusions:
- Infantile FSHD leads to severe, progressive orthopedic deformities and functional decline.
- Management strategies should prioritize addressing lumbar lordosis in wheelchair-dependent patients.
- Further research into effective interventions for ambulatory FSHD patients is warranted.
Abstract:
A retrospective study of 9 patients with infantile facioscapulohumeral muscular dystrophy defines orthopedic deformities and progression. Patients presented in the early months of life with facial diplegia. Sensorineural hearing loss occurred in 8 out of 9 with a mean onset at 5 (2-9) years. Walking began at the normal time, but worsened progressively, which was due mainly to gluteus maximus muscle weakness. Scapular winging, extreme lumbar lordosis, and foot drop were characteristic. The majority of patients (in this and other series) lose walking ability in the second decade. Efforts to control lumbar lordosis by bracing while the patients were still walking were ineffective. Control of lumbar lordosis after the patients are wheelchair-dependent is important.