Diagnosing X-Linked Myopathy With Excessive Autophagy After 30 years: Genetic, Ultrasonographic, and Electrodiagnostic Findings.

ABSTRACT: X-linked myopathy with excessive autophagy is a rare disorder caused by a mutation in the vacuolar ATPase assembly factor gene which causes slowly progressive early onset proximal weakness and loss of ambulation by the age of 50-70 years. Electrodiagnostic (EDx) testing usually shows widespread complex repetitive and myotonic discharges, even in muscles unaffected clinically. We report a 65-year-old man who presented with progressive proximal weakness since his teenage years. Extensive workup over 30 years revealed inconclusive EDx and muscle histopathology findings. The diagnosis was finally made with genetic testing. Subsequent neuromuscular ultrasound was more informative of disease severity than repeat EDx and directed a muscle biopsy that showed an autophagic vacuolar myopathy and the novel identification of vacuoles in capillary endothelial cells. Although genetic testing is required for confirmation, in milder cases of X-linked myopathy with excessive autophagy, neuromuscular ultrasound may aid in diagnosis even when EDx findings are inconclusive.

Clinical Reasoning: Woman With Acute Bilateral Ophthalmoplegia.

This is a case of a 75-year-old woman who presented with severe headache, left eye ptosis, and binocular diplopia and was found to have multiple cranial neuropathies on examination. This case reviews the localization and workup of multiple cranial neuropathies and emphasizes the importance of not prematurely narrowing the differential diagnosis.

Geospatial Analysis of Persons with Movement Disorders Living in Underserved Regions.

Background: Movement disorders persons from underserved areas have increased barriers to access tertiary care. There is currently limited data on the geographic and demographic profile of movement disorders persons from underserved areas. Methods: A retrospective chart review of the geographic and demographic profile of consecutive cases seen between 2002-2017 at the University of Florida Norman Fixel Institute for Neurological Diseases (UF-NFIND) was performed. Information collected included age, sex, diagnosis, zip code, treatment received, and insurance information. The distances between each person's home residence and the nearest movement disorders center of excellence (MDC) as well as the distance to the UF-NFIND were calculated using ArcGIS 10.3. Results: A total of 5.2% (355/6867) of the sample population were identified as a Medicaid/self-pay population and classified as underserved. The most common diagnoses were tic disorder (19.2%), dystonia (18.3%), and Parkinson's disease (14.3%). In underserved persons, the median distances from their homes to the UF-NFIND (82.19 [45.79-176.93] km) vs. their nearest MDC (63.34 [26.91-121.43] km) were significantly different (p < 0.001). Discussion: Underserved persons in our study travelled further to receive subspecialty care at UF-NFIND than closer MDCs. Potential reasons for underutilization of closer care could possibly include research opportunities, availability of specific treatments or procedures, insurance restrictions, and limited specialist availability. Despite this observation, underserved persons were underrepresented at our institution compared to the proportion of Medicaid/uninsured patients in Florida. Our results highlight the need for increased awareness of care options for underserved movement disorders populations.

Pain as a significant symptom in patients with periodic paralysis-A cross-sectional survey.

INTRODUCTION: Periodic paralysis (PP) is thought to be limited to episodes of muscle weakness, but there are reports of fibromyalgia-like pain in PP. We aimed to evaluate pain and comorbid sleep, fatigue, and mood disorders in PP patients. METHODS: We administered a cross-sectional survey to PP patients at the 2019 Periodic Paralysis Conference. The survey consisted of the Brief Pain Inventory, Widespread Pain Index, Pittsburgh Sleep Quality Index, Modified Fatigue Impact Scale, and ten-question Center for Epidemiologic Studies Depression Scale (CESD-10). Descriptive statistics for PP patients were calculated and compared with earlier studies. RESULTS: Forty-four individuals with PP took the survey. Of these patients, 52.3% reported a moderate to severe interference of pain on their lives, and 45.5% met the study criteria for fibromyalgia. Patients with SCN4A mutations had higher rates of fibromyalgia than the next most prevalent gene mutation, CACNA1S. In patients with pain, there were increased rates of comorbid fatigue, depression, and poor sleep quality. DISCUSSION: Pain, akin to fibromyalgia, is a significant symptom of PP and can affect quality of life. Pain in PP was more prevalent than in the general population, at a rate comparable with other chronic neuromuscular disease groups. PP patients could benefit from a multidisciplinary approach to assess their pain, sleep, fatigue, and mood.