Inclusion Body Myopathy

From Anvita Health Wiki

Contents 1 More Specific Terms 2 Epidemiology 3 Pathology 4 Laboratory 5 Notes 6 More General Terms 7 Additional Terms 8 Internet Database 9 References

More Specific Terms

• inclusion body myopathy 2
• inclusion body myopathy 3 (IBM3)

Epidemiology

• mean age of onset 42 years

Pathology

• benign myopathy
• cytoplasmic inclusions (rimmed vacuoles) by light microscopy in type 1 muscle fibers
• myofibrillary origin of the inclusions

• actin, myosin, Z-band Clincial manifestations:

• clinical features variable
• mild weakness of pelvic & shoulder girdles
• weakness & atrophy of muscles in the distal extremities, neck, thorax, & shoulder girdle
• disabilty after 5 to 10 years due to chronic respiratory failure

Laboratory

• serum creatine kinase normal or slightly elevated

Notes

• OMIM reference [1] has been moved to [2] which raises question of how inclusion body myopathy differs from myofibrillar myopathy

More General Terms

• genetic disease of muscle (inherited myopathy)

Additional Terms

• inclusion body myositis (inflammatory myositis, IBM)
• myofibrillar myopathy

Internet Database

OMIM: 147420

References

1. OMIM [1]
2. OMIM [2]

inclusion body myopathy