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Abstract Details

Diagnosis of myotonia congenita and multiple sclerosis in a patient with a familial history
Multiple Sclerosis
P9 - Poster Session 9 (5:30 PM-6:30 PM)
PPMS is a demyelinating disease that causes injury to brain and spinal cord and is characterized by progression of disability from onset with no or only minor remissions. MC is a neuromuscular channelopathy that affects skeletal muscles, manifesting primarily as delayed relaxation.  Co-occurrence of both disorders in the same patient has been described only rarely in the literature.
To report a case of a patient diagnosed with both primary progressive multiple sclerosis (PPMS) and myotonia congenita (MC), with family history of both disorders.
Case Report

A 34-year-old man initially presented to neurology clinic for 6 months of progressively worsening gait difficulty along with numbness and spasms in his hands and feet.  He had past medical history of T cell lymphoma and congenital cardiac disease including an aortic valve replacement and pacemaker on anticoagulation. 

Neurologic exam was notable for decreased sensation to vibration and light touch in hands and feet along with grip myotonia. EMG/NCS showed no large fiber polyneuropathy but signs of pseudomyotonia. Genetic testing subsequently confirmed a diagnosis of MC however this did not fully explain his sensory and gait symptoms.  Due to his pacemaker he was unable to undergo MRI. CT of brain and spine were unremarkable. Ocular Coherence Tomography (OCT) revealed right optic nerve atrophy. CSF sampling was obtained and positive for Oligoclonal Bands.  A diagnosis of PPMS was made and he was started on disease modifying therapy.   Of note, the patient’s father was also diagnosed with both MC and MS.

This case describes a patient with multiple neurologic symptoms who was ultimately diagnosed with both MC and PPMS, highlighting the importance of a thorough neurologic work-up to ensure the diagnosis accounts for all the presenting neurologic symptoms. It also raises the question of whether there could be a common underlying mechanism in these disorders.

Kara Stavros, MD, FAAN
Dr. Stavros has nothing to disclose.
Alexander Abud, MD (Pen Bay Neurology) Dr. Abud has nothing to disclose.
Syed Rizvi, MD (Neurology Foundation) Dr. Rizvi has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Serono Roche Bristol Myers . Dr. Rizvi has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for Na.