Axial myopathy--an unrecognised entity

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.

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.