Clinicopathological study of transiently ambulant Fukuyama-type congenital muscular dystrophy cases

M. Osawa, Z. P. Wang, K. Saito, S. Sumida, K. Shishikura, H. Suzuki, Y. Hirayama, H. Murasagi, Y. Arai, N. Hino, I. Kato, M. Sakauchi, K. Ikeya, E. Nakata, K. Hirasawa, K. Ishigaki, T. Nakanishi, M. Kobayashi, Y. Fukuyama

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4 Citations (Scopus)


Detailed clinical observations of ten patients with mild Fukuyama-type congenital muscular dystrophy (FCMD), confirmed by genetic analysis as having the ancestral founder haplotype, followed for 7-29 years, are reported. Muscle involvement was milder than that in typical cases, and differences such as better motor ability, compatible with transient ambulation, transient ability to step up stairs, persistence of deep tendon reflexes up to school age, relatively slow involvement of calf muscles confirmed by computed tomography, and longer life span, up to 30 years old, were found. Dilated cardiomyopathy was observed in adulthood. Cortical dysplasia and ophthalmological abnormalities were not prominent, but a higher frequency of cavum septum pellucidum and cerebellar cysts were found. Pathological study revealed retinal dysplasia in one case without any clinical ophthalmological findings except mild myopia. No significant environmental factors that influence the clinical course of FCMD were identified.

Original languageEnglish
Pages (from-to)96-103
Number of pages8
JournalActa Myologica
Issue numberSEPT.
Publication statusPublished - 2001 Dec 1
Externally publishedYes


  • Brain MRI
  • Muscle CT
  • Transiently ambulant FCMD

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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