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Clinical Reasoning: A 33-year-old man with cardiomyopathy and myopathy
An 18-year-old Hmong man sought medical care because of worsening performance on military training exercises. He had a previous syncopal episode with prompt recovery. His medical and developmental history were otherwise unremarkable. A chest radiograph revealed cardiomegaly and, after further cardiac tests, he was diagnosed with postinfectious or idiopathic cardiomyopathy. His cardiac function deteriorated and heart transplantation was pursued. During preoperative evaluation, his serum creatine kinase (CK) was noted to be persistently elevated in the 4,000s, prompting further investigation, but since he was not weak or oth...
Source: Neurology - August 21, 2016 Category: Neurology Authors: Foster, L. A., Courville, E. L., Manousakis, G. Tags: Lipidoses, Muscle disease, Cardiac, All Genetics RESIDENT AND FELLOW SECTION Source Type: research

The Novel m.9997 T>A tRNAGlyVariant Causes Multisystem Mitochondrial Disease Including Myopathy, Neuropathy, Cardiomyopathy, Intestinopathy and Nephropathy (P5.016)
CONCLUSIONS: The novel m.9997 T>A tRNAGly variant may cause significant multisystem disease including various forms of cardiomyopathy, myopathy, bowel dysmotility, neuropathy, and nephropathy. This case illustrates the importance of the extended family history to identify affected individuals and the need for awareness of the pleiotropy of mitochondrial disease.Disclosure: Dr. Roggenbuck has nothing to disclose. Dr. Ilacqua has nothing to disclose. Dr. Aubuchon has nothing to disclose. Dr. Kissel has received personal compensation for activities with Alexion Pharmaceuticals, Cytokinetics, and ISIS Pharmaceuticals as an advisor.
Source: Neurology - April 3, 2016 Category: Neurology Authors: Roggenbuck, J., Ilacqua, A., Aubuchon, A., Kissel, J. Tags: Neuromuscular Disease and Epilepsy ePoster Session Source Type: research

Cystinosis associated vasculopathy masquerading as atypical migraine headache (P1.032)
Conclusions: Cystinosis, especially if untreated, can lead to neurological complications, more commonly distal myopathy and, rarely as our patient suffered, cerebral vasculopathy. Identifying this vasculopathy is essential and can be treatable, thus preventing further neurologic deterioration.Disclosure: Dr. Smith has nothing to disclose. Dr. Kushlaf has nothing to disclose.
Source: Neurology - April 8, 2015 Category: Neurology Authors: Smith, D., Kushlaf, H. Tags: Cerebrovascular Disease and Interventional Neurology: Case Reports Source Type: research

Extraocular muscle fatigue evaluation in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) (P5.316)
CONCLUSIONS:The difference in eye movement characteristics, possibly related to the different response to fatigue, among treated and untreated subjects, have been discussed taking into consideration the anatomical peculiarities of extraocular muscles and their diverse dependence to mitochondrial metabolism. We suggest that the evaluation of adducting and abducting saccades (even clinically) in this and probably in other mitochondrial diseases, may add information on the severity of the disease or its response to treatment. Study Supported by: EC FP7-PEOPLE-IRSES-CERVISO 269263Disclosure: Dr. Vinciguerra has nothing to disc...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Vinciguerra, C., Federighi, P., Rosini, F., Pretegiani, E., Cardaioli, E., Dotti, M. T., Sicurelli, F., Federico, A., Rufa, A. Tags: Neuro-ophthalmology/Neuro-otology II Source Type: research

Sporadic late-onset nemaline myopathy with MGUS: Long-term follow-up after melphalan and SCT
Conclusions: This case series shows the positive effect of HDM-SCT in this rare disorder. Factors that may portend an unfavorable outcome are a long disease course before the hematologic treatment and a poor hematologic response. Age at onset, level and type of M protein ( vs ), and severity of muscle weakness were not associated with a specific outcome. Classification of evidence: This study provides Class IV evidence that for patients with SLONM-MGUS, HDM-SCT increases the probability of survival and functional improvement.
Source: Neurology - December 1, 2014 Category: Neurology Authors: Voermans, N. C., Benveniste, O., Minnema, M. C., Lokhorst, H., Lammens, M., Meersseman, W., Delforge, M., Kuntzer, T., Novy, J., Pabst, T., Bouhour, F., Romero, N., Leblond, V., Bergh, P. v. d., Vekemans, M.-C., van Engelen, B. G., Eymard, B. Tags: All Immunology, All Neuromuscular Disease, Muscle disease, Class IV ARTICLE Source Type: research

LMNA-associated myopathies: The Italian experience in a large cohort of patients
Conclusions: Our data provided new insights in LMNA-related myopathies, whose natural history appears to be dominated by cardiac involvement and related complications.
Source: Neurology - October 27, 2014 Category: Neurology Authors: Maggi, L., D'Amico, A., Pini, A., Sivo, S., Pane, M., Ricci, G., Vercelli, L., D'Ambrosio, P., Travaglini, L., Sala, S., Brenna, G., Kapetis, D., Scarlato, M., Pegoraro, E., Ferrari, M., Toscano, A., Benedetti, S., Bernasconi, P., Colleoni, L., Lattanzi, Tags: Muscle disease ARTICLE Source Type: research

CNS Toxoplasmosis: A Serious Complication Of Immunotherapy In The Neuromuscular Patient (P6.102)
Conclusions: Immunotherapy with medication such as MM can cause a devastating CNS toxoplasmosis in non-HIV patients with neuromuscular disorders. In contrast to the HIV infected patients, treatment is ineffective implying a different pathogenesis. Early consideration and recognition of this complication is important to possibly prevent unfavorable outcome.Disclosure: Dr. Bernardo has nothing to disclose. Dr. Chahin has nothing to disclose.
Source: Neurology - April 9, 2014 Category: Neurology Authors: Bernardo, D., Chahin, N. Tags: Neuromuscular Disease Source Type: research