AANEM News Express

AANEM News Express

Science News: Natural History of Facioscapulohumeral Dystrophy in Children: A 2-Year Follow-Up

This is a small 2-year follow-up study of genetically confirmed facioscapulohumeral dystrophy (FSHD) cases from the Netherlands. On clinical examination, facial weakness was observed as a sign of disease progression. FSHD clinical score 0-15 and muscle ultrasound Z score appeared to be most promising outcome measures of progression. Despite disease progression, children may still notice improvement in functional capacity, including the 6-minute walk test. Pain, fatigue, and decreased quality of life were common symptoms during follow-up. 

Science News: Mitochondrial Disease in Adults: Recent Advances and Future Promise

This article provides an up-to-date review of the clinical and biochemical approach to mitochondrial disorders in adults. The clinical approach algorithm is especially useful. The NM neuro-imaging features will also help clinicians.

Science News: Clinical and Genetic Characteristics in Young, Glucocorticoid-Naïve Boys With Duchenne Muscular Dystrophy

This article reports the genotype-phenotype characteristics of the largest international cohort of Duchenne muscular dystrophy (DMD) boys (participants in the Finding the Optimum Corticosteroid Regime for Duchenne Muscular Dystrophy (FOR-DMD)) pretreated with glucocorticoids. Out of 196 boys recruited, 193 were found to have a DMD mutation.

Science News: Life Expectancy in Duchenne Muscular Dystrophy: Reproduced Individual Patient Data Meta-Analysis

This is a systemic review of published literature on mortality in Duchenne muscular dystroph (DMD) up to July 2020 which focused on publications with Kaplan-Meier (KM) survival curves with age as a time scale. Of the 1,177 articles identified, 14 publications met the inclusion criteria providing data on 2,283 patients of whom 1,049 had died. Median life expectancy was 22 years. Analysis stratified by 3 time periods showed increased life expectancy in more recent patient populations born after 1990 had a median life expectancy of 28.1 years.

Submit an Abstract for the Myasthenia Gravis Foundation of America’s 2022 Scientific Session

The abstract submission window has officially opened for the 2022 Scientific Session of the Myasthenia Gravis Foundation of America, Inc. (MGFA). This year’s deadline is June 15, 2022.

Science News: Is There an Association Between Ulnar Nerve Hypermobility and Neuropathy at the Elbow?

Authors reviewed literature regarding associations between UNH and UNE. Studies diagnosing UNH both with physical exam (3) and US (17) were included. Studies looking at post op findings, hereditary neuropathy with liability to pressure palsy, polyneuropathy, trauma, and pediatric cases were included.

Analysis revealed no association between UNH and UNE. However, post hoc analysis of cross-sectional areas (CSA) of the ulnar nerve in seven studies revealed that the difference in CSA between stable and UNH was doubled in the patients with UNE vs. those without.

Science News: Ultrasound First for Pediatric Patients in an Electrodiagnostic Laboratory

Authors investigated the impact of a US-first approach, adopted in their EMG lab, for pediatric patients. They retrospectively identified pediatric patients who were examined via US prior to EDX tests and those undergoing EDX tests initially. Authors compared the number of nerves stimulated in NCS and the number of muscles sampled in EMG between groups. They also presented two cases to demonstrate the impact of using a US-first approach.

Science News: An Approach to Assessing Immunoglobulin Dependence in Chronic Inflammatory Demyelinating Inflammatory Polyneuropathy

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a peripheral nerve disease coursing with weakness and impaired sensation. The course tends to be relapsing-remitting or progressive if left untreated. While there is evidence to support treatment with IVIg, plasma exchange, or steroid therapy and consensus on how to identify and monitor patients needing a protracted treatment course, data on when and how to stop therapy and identify remission is lacking. The authors of this paper sought to elucidate IVIg treatment cessation strategies in CIDP.

Science News: Nitrous Oxide-Induced Myeloneuropathy

Nitrous oxide (NO, also known as laughing gas, balloons, whippets) abuse is increasingly recognized as an issue worldwide. Prolonged NO misuse inactivates vitamin B12, causing combined subacute degeneration. The authors studied a cohort of 20 patients with NO misuse. The average patient age was 24 years and mean canister consumption was 148 per day for 9 months. Common presentation included sensory symptoms with paresthesias and gait unsteadiness. In severe cases, patients were bedbound.

Science News: Variable Presentation of Hereditary Transthyretin-Mediated Amyloidosis at a Single Center

This is a retrospective study of 12 patients with a diagnosis of hereditary transthyretin-mediated (hATTR) amyloidosis at a single center in Austin, Texas. All patients were initially diagnosed with either polyneuropathy (83%) or myopathy (25%). Eventually these patients were all diagnosed with haTTR amyloidosis. The median time to diagnosis for these patients was 5 years (up to 10 years) during which their mobility had declined significantly.