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Multi-minicore disease revisited.

Anamarli Nucci1, Luciano S Queiroz, Helder J L Zambelli

  • 1Department of Neurology, Faculty of Medical Sciences, State University of Campinas (UNICAMP), Campinas, SP, Brazil. anucci@ni.hc.unicamp.br

Arquivos De Neuro-Psiquiatria
|December 21, 2004
PubMed
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Multi-minicore disease (MmD), a congenital myopathy, presents with muscle weakness and distinct structural changes. This study details three cases, highlighting diagnostic challenges and clinical variability in this rare genetic disorder.

Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Multi-minicore disease (MmD) is a rare congenital myopathy characterized by specific microscopic muscle abnormalities.
  • It typically presents with hypotonia and generalized weakness, often with autosomal recessive inheritance.
  • Genetic heterogeneity is known, with mutations in RYR1 and SEPN1 genes identified.

Observation:

  • Three unrelated MmD cases were analyzed, showcasing diverse clinical presentations.
  • Case 1 exhibited a classical benign form over 15 years.
  • Case 2 showed pharyngolaryngeal involvement and delayed head control, with gradual improvement.
  • Case 3 presented with antenatal onset, hand arthrogryposis, and scapular girdle weakness, stabilizing with physiotherapy.

Findings:

Related Experiment Videos

  • All cases demonstrated characteristic multi-minicore structures in biceps brachii muscle biopsies.
  • Electron microscopy revealed multiple small areas lacking oxidative enzyme activity and sarcomere disorganization.
  • Case 2 presented diagnostic challenges due to fiber uniformity and mild fibrosis, mimicking congenital muscular dystrophy.

    • Implications:

    • This study underscores the clinical heterogeneity of multi-minicore disease.
    • Accurate diagnosis relies on characteristic morphological findings, especially in challenging cases.
    • Understanding MmD's spectrum aids in better patient management and genetic counseling.