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Abstract Details

Nerve Conduction Studies in Familial Dysautonomia
Neuromuscular and Clinical Neurophysiology (EMG)
P6 - Poster Session 6 (12:00 PM-1:00 PM)
1-001

Peripheral neuropathy is a cardinal feature of patients with FD. NCS can help to characterize the type and severity of peripheral neuropathy in these patients.

To evaluate the nerve conduction studies (NCS) in patients with familial dysautonomia (FD, hereditary sensory and autonomic neuropathy type 3).

We evaluated NCS in 35 patients with FD (aged 28.3±13 years old) and 34 age-matched healthy controls (aged 30.2±10 years old). Distal latencies, conduction velocities and peak amplitudes of motor (CMAP) and sensory (SNAP) responses were evaluated in ulnar, peroneal and sural nerves

Patients with FD had significantly increased motor latencies in peroneal (5.5±2.1 vs. 4.4±0.7 ms in controls, P=0.03) and ulnar (3.1±0.6 vs. 2.8±0.4 ms in controls, P=0.02) nerves and increased sensory latencies in sural (2.4±0.3 vs. 2.2±0.2 ms, P=0.04) and ulnar (2.5±0,6 vs 2.1±0.3 ms, P=0.02) nerves. Patients with FD also had significantly decreased motor conduction velocities in peroneal (40.5±5.4 vs. 52±4.7 m/s in controls P=0.001) and ulnar nerves (48.8±4.7 vs. 59.1± 4.8 m/s in controls, P=0.00), as well as decreased sensory conduction velocities in  sural (42.7±6.7 vs. 48.9±2.8 m/s in controls, P=0.001) and ulnar nerves (47.1±7.6 vs. 53±4.4 m/s in controls, P=0.001). Patients with FD also had significantly decreased CMAP amplitude in the peroneal nerve (4.8±3.3 vs. 9.1± 3.8 mV, P=0.001) and decreased SNAP amplitude in the sural (15.5±8.7 vs. 30.8±9.7 uV in controls, P=0.001) and ulnar nerves (25.3±32 vs. 40.6±28 uV in controls, P=0.04). Ulnar CMAP amplitude was similar in FD and controls (16.4±4.4 vs. 15.5±3.9 uV). 

Patients with FD have axonal and demyelinating abnormalities in sensory and motor fibers. Demyelination of motor fibers is much less severe than in other hereditary neuropathies but, nevertheless, apparent in many patients with FD. Decreased CMAP and SNAP amplitudes indicate reduced number of axons. Sensory responses are more affected than motor responses. 

Authors/Disclosures
Joel Gutierrez, MD (Cuban Institute of Neurology & Neurosurgery)
PRESENTER
No disclosure on file
Bhumika Balgobin, MD (NYU Langone Ambulatory Care East Meadow) No disclosure on file
Jose-Alberto Palma, MD, PhD, FAAN (New York University Grossman School of Medicine) Dr. Palma has received personal compensation for serving as an employee of Novartis. Dr. Palma has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Clinical Autonomic Research. The institution of Dr. Palma has received research support from National Institutes of Health. Dr. Palma has received publishing royalties from a publication relating to health care.
No disclosure on file
Horacio C. Kaufmann, MD, FAAN (NYU Langone Health - NYU Dysautonomia Center) Dr. Kaufmann has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Theravance. Dr. Kaufmann has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Lilly USA. Dr. Kaufmann has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Takeda Pharmaceuticals. Dr. Kaufmann has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Ono Pharma UK Ltd. Dr. Kaufmann has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Vaxxinity. Dr. Kaufmann has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Spinger. The institution of Dr. Kaufmann has received research support from Biogen. Dr. Kaufmann has received publishing royalties from a publication relating to health care.