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Adult-onset nemaline myopathy

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A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.


The annual incidence of NM has been estimated at 1/50,000 live births. Adult-onset NM represents <5% of total cases.


Adult onset NM is usually sporadic and no familial history of neuromuscular diseases is found.

Signs and symptoms

  • Adult onset NM occurs sporadically between 20 and 50 years of age.
  • It presents with a generalized weakness, myalgia and rapid progression.
  • Several cases have been associated with cardiomyopathy, dropped head syndrome and respiratory involvement.
  • Muscle biopsy can reveal inflammatory changes.
  • Monoclonal gammopathy and paresthesiae may be a marker of poor prognosis.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

  • EMG: myopathic abnormalities
  • Nemaline bodies

30%-79% of people have these symptoms

  • Bradykinesia(Slow movements)
  • Increased muscle lipid content(Fat accumulation in muscle fibers)
  • Increased variability in muscle fiber diameter
  • Myalgia(Muscle ache)
  • Neck flexor weakness(Neck flexion weakness)
  • Paraproteinemia
  • Type 1 muscle fiber predominance
  • Upper limb muscle weakness(Decreased arm strength)

5%-29% of people have these symptoms

  • Bulbar signs
  • Difficulty walking(Difficulty in walking)
  • Dilated cardiomyopathy(Stretched and thinned heart muscle)
  • Feeding difficulties(Feeding problems)
  • Flexion contracture(Flexed joint that cannot be straightened)
  • High palate(Elevated palate)
  • Hyporeflexia(Decreased reflex response)
  • Long face(Elongation of face)
  • Lower limb muscle weakness(Lower extremity weakness)
  • Micrognathia(Little lower jaw)
  • Muscle fibrillation
  • Muscle stiffness
  • Narrow face(Decreased breadth of face)
  • Neuromuscular dysphagia
  • Reduced vital capacity
  • Respiratory insufficiency due to muscle weakness(Decreased lung function due to weak breathing muscles)

1%-4% of people have these symptoms



NIH genetic and rare disease info

Adult-onset nemaline myopathy is a rare disease.


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