Adult-onset nemaline myopathy: Difference between revisions

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Definition

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

Epidemiology

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

Inheritance

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

Mildly elevated creatine kinase

Diagnosis

Treatment

NIH genetic and rare disease info

NIH info on Adult-onset nemaline myopathy

Adult-onset nemaline myopathy is a rare disease.

Resources

Message

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