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Objectives: Congenital myopathies are muscle disorders with variable clinical presentation. We present a case with characteristic history who was diagnosed late in the life, with typical findings on pathologic specimen.
Methods: Case report.
Results: The 65-year-old female presents with worsening weakness, restricting daily activities. Weakness is described as proximal muscle weakness which has been slowly progressive. Duration of symptom is since birth and patient has a history of delayed motor development. Patient also has strong family history of similar symptoms with her mother having scoliosis, weakness and high arch feet. Patient has a daughter who also suffers from proximal muscle weakness. The patient’s daughter has 5 kids and 3 of them have similar weakness. Proximal muscle weakness, scoliosis and high arched feet were evident on examination. EMG/Nerve conduction studies revealed findings consistent with “mild myopathy process”. Right deltoid muscle biopsy confirmed myofiber atrophy and myopathy with cores and rods.
Conclusions: Core-rod myopathy is a relatively rare form of congenital myopathy. It is known by the presence of cores and rods in separate regions of same or different muscle fibers. This case highlights the need to obtain neuromuscular evaluation for patients who present early in life with minimal weakness pattern, which is also slowly progressive. Timely evaluation and diagnosis will allow patients to make informed decision regarding their career choices as well as starting a family.