Abstract
CASE DESCRIPTION: A 23-year-old male with multiple episodes of worsening lower extremity weakness underwent acute inpatient rehabilitation after admission to acute care for inability to walk and severe pain. The patient had profoundly elevated creatinine kinase. Initial evoked potentials revealed motor unit action potentials of reduced amplitude consistent with myopathy. Needle EMG/NCV of the lower extremity revealed extensive repetitive myotonic discharges and spontaneous abnormal potentials consistent with muscle spasm. After performing an extensive genetic marker analysis which was positive for a gene variant sequence, we confirmed the diagnosis of Myotonia Congenita.
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