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Congenital fiber type disproportion--30 years on
Nigel F Clarke1, Kathryn N North
1Institute for Neuromuscular Research, Children's Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.
Journal of Neuropathology and Experimental Neurology
|October 25, 2003
Summary
Congenital fiber type disproportion (CFTD) is a distinct diagnostic entity. Its homogeneous phenotype and familial occurrence suggest a genetic basis, supporting its retention in clinical practice.
Area of Science:
- Neurology
- Muscle Biology
- Genetics
Background:
- Congenital fiber type disproportion (CFTD) was initially described 30 years ago.
- The histological pattern of CFTD is now recognized in various neurological disorders.
- This has led to questions about CFTD's status as a distinct nosological entity.
Observation:
- A literature review identified 67 cases of CFTD using strict exclusion criteria.
- Most patients presented with congenital weakness, hypotonia, and normal intelligence.
- Familial occurrence was noted in 43% of cases, suggesting a genetic basis.
Findings:
- CFTD presents with a relatively homogeneous phenotype, supporting its retention as a diagnostic entity.
- Common features include failure to thrive, contractures, and spinal deformities.
- Ophthalmoplegia and bulbar weakness are associated with a poorer prognosis, with 10% mortality from respiratory failure.
Implications:
- The findings support retaining CFTD as a distinct diagnostic entity due to its homogeneous phenotype.
- Familial occurrence highlights the likely genetic basis of CFTD.
- The study found no strong evidence to increase the diagnostic threshold for fiber size difference.