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Intervention Effect on Fellow Muscle Biopsy Reading Accuracy in Inflammatory Myositis (P2.124)
Conclusions:Improved accuracy in the interpretation of IIM pathology amongst inexperienced muscle biopsy readers can support the use of a limited standardized educational program.Disclosure: Dr. Hamasaki has nothing to disclose. Dr. Jawdat has nothing to disclose. Dr. Kimple has nothing to disclose. Dr. Dimachkie has received personal compensation for activities with Pfizer, Depomed, Merck, CSL-Behring, Nufactor, Biomarin, Baxter and Catalyst as a consultant and/or speaker. Dr. Pasnoor has nothing to disclose. Dr. Statland has received personal compensation for activities with Sarepta, ATYR Bristol Meyers Squib, Acceleron,...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Hamasaki, A., Jawdat, O., Kimple, D., Dimachkie, M., Pasnoor, M., Statland, J., Barohn, R., Glenn, M., Herbelin, L. Tags: Myopathies & amp;amp; Myasthenia Gravis II Source Type: research

Hereditary Inclusion Body Myopathy without Paget Disease and Frontotemporal Dementia Associated with Valosin-Containing Protein Mutation: A Case Report (P5.074)
CONCLUSIONS: The aforementioned VCP gene mutation is associated with variable IBMPFD phenotypes, which can differ even amongst family members. Familial IBMPFD and VCP testing should be considered in atypical sporadic IBM-like patients, whose weakness is associated with extramuscular features, and those with family history of myopathy.Disclosure: Dr. Pack has nothing to disclose. Dr. Walsh has nothing to disclose. Dr. Rakocevic has nothing to disclose.
Source: Neurology - April 3, 2016 Category: Neurology Authors: Pack, K., Walsh, A., Rakocevic, G. Tags: Hereditary Muscle Diseases: Genetics and Phenotype Source Type: research

Adult osteomalacia: A treatable cause of "fear of falling" gait
A 65-year-old man was hospitalized with a gait disorder, obliging him to shuffle laterally1 (video on the Neurology® Web site at www.neurology.org) because of pain and proximal limb weakness. He had a gastrectomy for cancer 7 years previously, with severe vitamin D deficiency; parathormone and alkaline phosphatase were increased, with reduced serum and urine calcium and phosphate. There was reduced bone density (figure). He was mildly hypothyroid and pancytopenic. B12 and folate levels were normal. Investigation for an endocrine neoplasm (CT scan, Octreoscan) was negative. EMG of proximal muscles was typical for chroni...
Source: Neurology - May 27, 2013 Category: Neurology Authors: Ripellino, P., Terazzi, E., Bersano, E., Cantello, R. Tags: Endocrine, Gastrointestinal, Gait disorders/ataxia, Muscle disease, All Neuropsychology/Behavior VIDEO NEUROIMAGES Source Type: research

A Broad Phenotype Related to a New POLG1 Mutation (P01.121)
CONCLUSIONS: We described a new POLG mutation (A143V). This mutation seems to show a broad phenotype ranging from intractable epilepsy to cachectic myopathy. Face to uncommon condition affecting both central and peripheral nervous system, the clinician should evoke POLG spectrum disorders.Disclosure: Dr. Chrestian has nothing to disclose. Dr. Dupre has nothing to disclose.
Source: Neurology - February 14, 2013 Category: Neurology Authors: Chrestian, N., Dupre, N. Tags: P01 Muscle Disease: Other Source Type: research