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Floppy infant caused by MTM1 mutation: a first genetically-confirmed X-linked myotubular myopathy patient in Thailand

Teerin Liewluck1, Natte Raksadawan, Chanin Limwongse

  • 1Department of Pathology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Journal of the Medical Association of Thailand = Chotmaihet Thangphaet
|April 6, 2006
PubMed

Insights

Floppy infant syndrome (FIS) is generalized hypotonia in newborns. This case highlights X-linked myotubular myopathy (XMTM), a severe congenital myopathy, genetically confirmed in Thailand.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Floppy infant syndrome (FIS) presents as generalized hypotonia in newborns.
  • FIS is a heterogeneous condition with diverse etiologies including CNS, neuromuscular, and genetic disorders.

Observation:

  • X-linked myotubular myopathy (XMTM) is a progressive congenital myopathy.
  • XMTM is characterized by centrally nucleated muscle fibers and often presents with floppiness and respiratory distress at birth.
  • Mutations in the MTM1 gene are the primary cause of XMTM.

Findings:

  • A full-term male infant presented with clinicopathological features consistent with XMTM.
  • Genetic analysis confirmed a c.141-144delAGAA mutation in the MTM1 gene.
  • This represents the first genetically confirmed case of XMTM in Thailand.

Implications:

  • This case underscores the importance of genetic confirmation in diagnosing XMTM.
  • Accurate diagnosis is crucial for understanding the prevalence and genetic landscape of XMTM in different regions.
  • Early diagnosis facilitates appropriate management and genetic counseling for affected families.

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