Adult onset nemaline myopathy

Area of Science:

• Neurology
• Muscle Disorders
• Biochemistry

Background:

• Nemaline myopathy is a congenital or late-onset neuromuscular disorder.
• Typically, patients present with progressive muscle weakness and atrophy.
• Elevated creatine kinase is not a common feature of nemaline myopathy.

Observation:

• A 47-year-old male presented with a year-long history of nemaline myopathy symptoms.
• Marked elevations in creatine kinase (CK) levels were observed, which is atypical for this condition.

Findings:

• The patient exhibited significant creatine kinase elevations, a finding not previously documented in nemaline myopathy literature.
• Autopsy examination of the nervous system showed no pathological abnormalities.

Implications:

• This case highlights a potential biochemical marker (elevated CK) in adult-onset nemaline myopathy.
• Further research is warranted to understand the mechanism behind elevated CK in this patient.
• The absence of neurological findings reinforces the classification of nemaline myopathy as a primary muscle disorder.