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Sequential muscle biopsy changes in a case of congenital myopathy

M J Danon1, C S Giometti, J R Manaligod

  • 1Department of Neurology, New York Medical College, Valhalla 10595, USA.

Muscle & Nerve
|May 1, 1997
PubMed

Insights

Congenital fiber-type disproportion (CFTD) can progress to centronuclear myopathy (CNM) in infants. Muscle biopsies revealed this progression, highlighting the need for repeat biopsies in deteriorating cases.

Area of Science:

  • Neurology
  • Pediatrics
  • Muscle Diseases

Background:

  • Congenital fiber-type disproportion (CFTD) is a rare neuromuscular disorder presenting in infancy.
  • Clinical presentation and progression of CFTD can vary significantly.
  • Centronuclear myopathy (CNM) is characterized by specific histopathological features, including central nuclei in muscle fibers.

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