Dysferlinopathy associated with rigid spine syndrome

Toshiko Nagashima, Takayo Chuma, Yukio Mano, Yu Ichi Goto, Yukiko K. Hayashi, Narihiro Minami, Ichizo Nishino, Ikuya Nonaka, Toshiaki Takahashi, Hirofumi Sawa, Masashi Aoki, Kazuo Nagashima

Research output: Contribution to journalArticlepeer-review

24 Citations (Scopus)

Abstract

Dysferlinopathy and rigid spine syndrome occurring in a 50-year-old man is reported. The patient noticed stiffness of knee and ankle joints, which gradually extended to neck, wrist and elbow joints leading to difficulty in anterior flexion. Muscular weakness and wasting of the lower extremities had developed since age 40, accompanied by a limitation of anterior bending of the spine. Elevated serum CK was noticed. Muscle CT revealed atrophy with moderate fatty replacement of muscles in the neck, shoulder and pelvic girdle, and marked replacement in the para-vertebral muscles, posterior compartment of hamstrings and calf muscles. Electromyography showed a typical myogenic pattern, and muscle biopsy disclosed dystrophic changes, compatible with limb-girdle muscular dystrophy 2B. Loss of dysferlin expression was verified by immunohistochemistry, which was confirmed by a mini-multiplex Western blotting system. Gene analyses of the dysferlin gene disclosed compound heterozygotes for frameshift (G3016 + 1A) and a missense mutation (G3370T). This study might propose some clues to resolve the combination of musular dystrophies and rigid spine syndrome.

Original languageEnglish
Pages (from-to)341-346
Number of pages6
JournalNeuropathology
Volume24
Issue number4
DOIs
Publication statusPublished - 2004 Dec

Keywords

  • Dysferlin gene mutation
  • Dysferlinopathy
  • Limb girdle muscular dystrophy 2B
  • Rigid spine syndrome

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Clinical Neurology

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