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Early-onset facioscapulohumeral muscular dystrophy: two case reports
A Okinaga1, T Matsuoka, J Umeda
1Department of Pediatrics, Osaka University School of Medicine, Suita, Japan.
Brain & Development
|January 24, 1998
Summary
Early-onset facioscapulohumeral muscular dystrophy (FSHD) in infants shows typical muscle changes and genetic markers. This suggests early diagnosis and genetic analysis are crucial, regardless of family history.
Area of Science:
- Neurology
- Genetics
- Pathology
Background:
- Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle disorder.
- Early-onset FSHD presents diagnostic challenges.
- Understanding early histopathological and genetic features is key.
Observation:
- Two infants with FSHD presented with facial weakness from infancy.
- Muscle biopsies revealed mild myogenic changes, regeneration, and inflammatory infiltration in one patient.
- Both patients exhibited the characteristic EcoRI DNA fragment associated with FSHD.
Findings:
- Muscle histopathology in these young patients aligns with classical FSHD, irrespective of age or disease duration.
- Genetic analysis confirmed FSHD markers in both familial and sporadic cases.
- Early-onset FSHD shares common histopathological and molecular findings with later-onset forms.
Implications:
- Muscle biopsy findings in FSHD are not dependent on patient age or disease duration.
- Genetic testing for FSHD is significant even in sporadic cases.
- This study expands the known clinical and pathological spectrum of early-onset FSHD.