Clinical History
45-year-old woman with mild, symmetric, slowly-progressive upper and lower extremity weakness beginning in childhood. Her past medical history is positive for hypertension, migraines and surgery in childhood for scoliosis.
What is your diagnosis?
A. Type I atrophy
B. CFTD
C. Nemaline myopathy
D. Neurasthenic syndrome
Correct Answer: Nemaline myopathy
Mutations in NEB are the most common cause of nemaline myopathy followed by ACTA1. Most cases of autosomal recessive nemaline myopathy are due to compound heterozygous mutations.
Histology: Nemaline rods are diagnostic; otherwise highly variable. This case would also meet criteria for congenital fiber-type disproportion (CFTD) myopathy; however the presence of numerous nemaline rods precludes that diagnosis.
References/Additional Readings:
Haghighi A. Eur J Hum Genet. 2023;31:1237-50.
Lehtokari VL. Hum Mutat. 2006;27:946-56.
Laitila J. Neuromuscul Disord. 2021;31:955-67.
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