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Types of Skeletal Muscle Fibers01:32

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Skeletal muscles comprise various fibers, each with distinct characteristics and roles in movement and stability. They are mainly categorized into three types — fast-twitch, slow-twitch, and intermediate.
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Updated: Mar 30, 2026

Tissue Triage and Freezing for Models of Skeletal Muscle Disease
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Congenital fiber type disproportion.

Juliana Kissiedu1, Richard A Prayson1

  • 1Cleveland Clinic Department of Anatomic Pathology, L25 Cleveland Clinic, Cleveland, OH 44195, USA.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
|November 4, 2015
PubMed
Summary
This summary is machine-generated.

Congenital fiber type disproportion causes type I muscle fiber atrophy and nonprogressive weakness in children. Diagnosis requires excluding other neuromuscular disorders, highlighting CFTD as a diagnosis of exclusion.

Keywords:
Congenital fiber type disproportionMuscle biopsySkeletal muscleType I atrophy

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Area of Science:

  • Neurology
  • Pediatrics
  • Muscle Biology

Background:

  • Congenital fiber type disproportion (CFTD) is a pediatric neuromuscular disorder characterized by nonprogressive muscle weakness.
  • Type I muscle fiber atrophy is a key feature in various childhood neuromuscular conditions.

Observation:

  • A case study of a 2-year-9-month-old boy with congenital muscle weakness, presenting initially with limited head movement.
  • Clinical manifestations included muscle weakness, broad-based gait, and a positive Gower's sign.
  • Diagnostic workup revealed normal creatine kinase levels and electromyography, with muscle biopsy showing marked type I muscle atrophy.

Findings:

  • Vastus lateralis biopsy demonstrated significant type I muscle fiber atrophy with minimal type II fiber involvement.
  • Histochemical stains (ATP-ase, NADH, SDH, cytochrome oxidase) and electron microscopy ruled out other myopathies, ragged red fibers, and mitochondrial abnormalities.
  • Immunostaining confirmed normal expression of muscular dystrophy-associated proteins.

Implications:

  • CFTD diagnosis is established by excluding other causes of type I muscle atrophy, including congenital myopathies.
  • The lack of specific genetic markers suggests CFTD represents a spectrum of disease and is a diagnosis of exclusion.
  • Further research is needed to understand the underlying pathophysiology and potential specific treatments for CFTD.