Congenital fiber type disproportion

Congenital fiber type disproportion (CFTD) is an inherited form of myopathy with small type 1 muscle fibers that may occur in a number of neurological disorders.[1] It has a relatively good outcome and follows a stable course.[2] While the exact genetics is unclear, there is an association with mutations in the genes TPM3, ACTA1 and SEPN1.[3] It is a rare condition.[4]

Histopathology of congental muscle fibre dysproportion showing predominance of type 1 fibres which appear to be atrophic (yellow arrows) and few type 2 fibres. ATPase staining (pH 4) of a muscle biopsy.

History

The condition was named by M. H. Brooke in 1973.[1]

References
  1. Clarke NF, North KN (October 2003). "Congenital fiber type dispropsortion—30 years on". J. Neuropathol. Exp. Neurol. 62 (10): 977–89. doi:10.1093/jnen/62.10.977. PMID 14575234.
  2. Na SJ, Kim WK, Kim TS, Kang SW, Lee EY, Choi YC (August 2006). "Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance". Yonsei Med. J. 47 (4): 513–8. doi:10.3349/ymj.2006.47.4.513. PMC 2687732. PMID 16941741.
  3. Clarke NF, Kolski H, Dye DE, et al. (March 2008). "Mutations in TPM3 are a common cause of congenital fiber type disproportion". Ann. Neurol. 63 (3): 329–37. doi:10.1002/ana.21308. PMID 18300303.
  4. Sharma MC, Ralte AM, Atri SK, Gulati S, Kalra V, Sarkar C (June 2004). "Congenital fiber type disproportion: a rare type of congenital myopathy: a report of four cases". Neurol India. 52 (2): 254–6. PMID 15269486.
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