Abstract Details

Title ADSSL1 Myopathy: A Case Report

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P12 - Poster Session 12 (5:30 PM-6:30 PM)

Poster/Presentation
Number 11-003

Objective To characterize a rare genetic myopathy with variable presentation, adenylosuccinate synthetase like 1 (ADSSL1) myopathy.

Background ADSSL1 myopathy is a rare autosomal reseccive myopathy. It was first described in an adolescent Korean population as a distal myopathy (2). Since the original characterization of weakness by Park et al there have been reports of more varied clinical presentations. A review of patients with nemaline rod myopathy in Japan found 63 patients with biallelic ADSSL1 mutations with variable clinicl presentations (1). Another case report identified a Turkish man with proximal weakness (3).

Design/Methods Clinical information was collected from the EMR and from the patient over the phone. The patient gave consent for his clinical information to be published in a case report.

Results A 62 year-old Indian man previously diagnosed with LGMD who presented for genetic testing. The patient has no family history of consnguinity or muscular dystrophy. Prior to developing symptoms he performed poorly in sports and running compared to his peers. He first came to medical attention at 27 yo due to difficulty climbing stairs followed soon by difficutly with ADL's requiring him to raise his hands over his head a few years later. This progressed to weakness distally in his legs requiring the use of a wheel chair full time by age 38. Weakness progressed to his distal UE and respiratory weakness requiring CPAP at night in his 40's. He developed worsening shortness of breath requiring BIPAP during most of the day and bulbar weakness with facial weakness, incomplete eyelid closure and dysphagia by his 60's. Whole exome sequencing showed pathogenic varieant of ADSSL1-related disorder autosomal recessive c910G>Ap.D304N homozygous.

Conclusions ADSSL1 myopathy has a variable clinical course and progresses to involve proxiaml, distal and bulbar weakness. ADSSL1 myopathy may now be considered in adults with LGMD phenotype.

Authors/Disclosures
David Atherton, MD (Robert Wood Johnson Medical School) PRESENTER	Dr. Atherton has nothing to disclose.
Megan Leitch, MD (Atlantic Health)	Dr. Leitch has nothing to disclose.

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