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Related Experiment Videos

Axial myopathy--an unrecognised entity.

Ibrahim Mahjneh1, G Marconi, A Paetau

  • 1Department of Neurology, University of Oulu, PL 5000, 90014 Oulu, Finland. ibrahim.mahjneh@kass.fi

Journal of Neurology
|July 12, 2002
PubMed
Summary

Axial myopathy (AM), a rare neuromuscular condition, affects spinal muscles causing bent spine and dropped head. This study highlights AM may be more common than previously thought.

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Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Axial myopathy (AM) is a rare neuromuscular disorder.
  • Characterized by selective spinal muscle involvement, leading to bent spine and/or dropped head.

Observation:

  • Six patients with pure axial myopathy underwent clinical, histopathological, MRI, genetic, and electrophysiological investigations.
  • Symptoms, including difficulty maintaining an upright posture, appeared between ages 35-56 and progressed slowly.
  • Muscle imaging and strength tests confirmed isolated involvement of spinal and neck extensor muscles.

Findings:

  • Serum CK levels were normal to slightly elevated.
  • EMG and muscle biopsies revealed an advanced chronic myopathic pattern in spinal muscles.
  • Bent spine and dropped head symptoms improved when patients were in a supine position.

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Implications:

  • Axial myopathy may be underdiagnosed.
  • Progressive cervical kyphosis might be misattributed to normal aging or other neurological/vertebral conditions.
  • Further research is needed to improve AM diagnosis and understanding.