Dysferlinopathy associated with rigid spine syndrome

Neuropathology. 2004 Dec;24(4):341-6. doi: 10.1111/j.1440-1789.2004.00573.x.


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.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Dysferlin
  • Humans
  • Male
  • Membrane Proteins / deficiency*
  • Membrane Proteins / genetics
  • Middle Aged
  • Muscle Proteins / deficiency*
  • Muscle Proteins / genetics
  • Muscle Rigidity / genetics
  • Muscle Rigidity / metabolism
  • Muscle Rigidity / pathology*
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / metabolism
  • Muscular Dystrophies / pathology*
  • Spinal Diseases / genetics
  • Spinal Diseases / metabolism
  • Spinal Diseases / pathology*
  • Syndrome


  • DYSF protein, human
  • Dysferlin
  • Membrane Proteins
  • Muscle Proteins