Abstract Details

Title A pilot study of neuromuscular ultrasound as a biomarker for spinal-bulbar muscular atrophy

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P5 - Poster Session 5 (11:45 AM-12:45 PM)

Poster/Presentation
Number 11-007

Objective To perform a pilot study of neuromuscular ultrasound (NMU) as a biomarker in spinal bulbar muscular atrophy (SBMA).

Background SBMA is an inherited form of motor neuron disease caused by CAG-repeat expansion in the androgen receptor gene. The disease affects motor neurons, and there is also evidence of primary muscle involvement. One of the challenges in designing therapeutic clinical trials in SBMA is to find sensitive and non-invasive biomarkers. Ultrasound has shown similar properties to muscle MRI and is more sensitive and economical than MRI in detecting peripheral nerve pathology. It has also been validated as a biomarker in facioscapulohumeral muscular dystrophy. We used both qualitative and qualitative properties to correlated imaging findings with functional and laboratory tests.

Design/Methods

Design: A cross- sectional study of 4 genetically confirmed SBMA patients. All received clinical, imaging and laboratory evaluation at the National Institutes of Health Clinical Center in Bethesda, Maryland, under IRB-approved protocol 00-N-0043. All signed an informed consent.

Methods: A Samsung RS85 ultrasound was used. A protocol was developed to ensure all studies were performed using standardized positions and equipment settings.

Results As a test of reproducibility, the Bland-Altman plot showed that all measurements for both muscle thickness and grayscales (GS) were within the 95% confidence intervals except for GS of the tongue. There was a correlation between increased muscle GS and decreased quantitative muscle testing results for the biceps, rectus femoris, and gastrocnemius muscles (GM)(r²=0.95,0.6,0.5) respectively and P values (0.02,0.2, 0.2). t-test showed a statistically significant lower facial nerve diameter and lower tibialis anterior, GM, biceps and quadricepses muscle thickness compared to gender matched published data

Conclusions NMU correlates with clinical severity in SBMA. Thus, it has the potential to be used as a biomarker. A larger sample size and longitudinal data will be collected to evaluate sensitivity and validity.

Authors/Disclosures
Abdullah Z. Alqahtani, MD (National Institutes of Health) PRESENTER	Dr. Alqahtani has nothing to disclose.
Katharine Alter, MD (National Institutes of Health)	Katharine Alter, MD has received personal compensation for serving as an employee of Paradigm Medical Communications. Katharine Alter, MD has received personal compensation for serving as an employee of Cleveland clinic foundation. Katharine Alter, MD has received personal compensation for serving as an employee of Catalyst medical . Katharine Alter, MD has received personal compensation for serving as an employee of AANEM. Katharine Alter, MD has received personal compensation for serving as an employee of Efficiwent CME. Katharine Alter, MD has received publishing royalties from a publication relating to health care.
	No disclosure on file
Galen Joe	No disclosure on file
Angela Kokkinis	Angela Kokkinis has nothing to disclose.
Christopher Grunseich, MD (National Institutes of Health)	The institution of Dr. Grunseich has received research support from AnnJi Pharmaceuticals.
Kenneth H. Fischbeck, MD, FAAN (NINDS, NIH, Neurogenetics)	Dr. Fischbeck has received research support from NINDS/NIH. Dr. Fischbeck has received intellectual property interests from a discovery or technology relating to health care. Dr. Fischbeck has a non-compensated relationship as a Scientific Review Board member with Kennedy's Disease Association that is relevant to AAN interests or activities. Dr. Fischbeck has a non-compensated relationship as a Scientific Council member with Association Francaise contre les Myopathies that is relevant to AAN interests or activities. Dr. Fischbeck has a non-compensated relationship as a Independent Review Committee member with Target ALS that is relevant to AAN interests or activities. Dr. Fischbeck has a non-compensated relationship as a Scientific Advisory Board member, Musculoskeletal Diseases with Novartis that is relevant to AAN interests or activities. Dr. Fischbeck has a non-compensated relationship as a Senior Clinical Consultant with n-Lorem Foundation that is relevant to AAN interests or activities. Dr. Fischbeck has a non-compensated relationship as a Scientific Advisory Committee member with Stanford GNE myopathy program that is relevant to AAN interests or activities. Dr. Fischbeck has a non-compensated relationship as a Scientific Advisory Board member with Hereditary Disease Foundation that is relevant to AAN interests or activities. Dr. Fischbeck has a non-compensated relationship as a Scientific Advisory Board member with Packard Center for ALS Research that is relevant to AAN interests or activities. Dr. Fischbeck has a non-compensated relationship as a Scientific Advisory Board member with Huntington's Disease Society of America that is relevant to AAN interests or activities. Dr. Fischbeck has a non-compensated relationship as a TACT review panel member with TREAT-NMD that is relevant to AAN interests or activities.

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