Citations 62

Early‐onset limb‐girdle muscular dystrophy‐2L in a female athlete

Muscle & Nerve | November 16, 2016 | Volume: 55 | Issue: 5 | Pages: No page available

10.1002/mus.25471 | PMID 27862037

Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia

Neurology Genetics | September 9, 2016 | Volume: 2 | Issue: 5 | Pages: No page available

10.1212/nxg.0000000000000105 | PMID 27648472

Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine

Muscle & Nerve | December 13, 2015 | Volume: 53 | Issue: 2 | Pages: 165-168

10.1002/mus.25009 | PMID 26662952

Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia

JAMA Neurology | June 8, 2015 | Volume: 72 | Issue: 8 | Pages: 889

10.1001/jamaneurol.2015.0853 | PMID 26052878

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability

Neurology | November 8, 2014 | Volume: 83 | Issue: 24 | Pages: 2247-2255

10.1212/wnl.0000000000001079 | PMID 25381298

Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies [RETIRED]

Neurology | October 13, 2014 | Volume: 83 | Issue: 16 | Pages: 1453-1463

10.1212/wnl.0000000000000892 | PMID 25313375

DPAGT1 myasthenia and myopathy

Neurology | April 24, 2014 | Volume: 82 | Issue: 20 | Pages: 1822-1830

10.1212/wnl.0000000000000435 | PMID 24759841

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome

Neurology | March 8, 2014 | Volume: 82 | Issue: 14 | Pages: 1254-1260

10.1212/wnl.0000000000000295 | PMID 24610330

Anesthesia and Duchenne or Becker muscular dystrophy: review of 117 anesthetic exposures

Pediatric Anesthesia | August 6, 2013 | Volume: 23 | Issue: 9 | Pages: 855-864

10.1111/pan.12248 | PMID 23919455

Summary Background Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) are associated with life‐threatening perioperative complications, including rhabdomyolysis, hyperkalemia, and hyperthermia. Current recommendations contraindicate use of succinylcholine and volatile anesthetics; however, the latter recommendation remains controversial. Objective To review the perioperative outcomes of patients with DMD and BMD . Methods We reviewed records of patients with DMD or BMD who underwent anesthetic management at our institution from January 1990 through December 2011. Results We identified 47 patients ( DMD , 37; BMD , 10) who underwent 117 anesthetic exposures ( DMD , 101; BMD , 16). Volatile anesthetic agents were used 66 times ( DMD , 59; BMD , 7). One patient with undiagnosed BMD received succinylcholine and developed acute rhabdomyolysis and hyperkalemic cardiac arrest. All other major complications were attributed to the procedure (i.e., large bleeding), to preexisting comorbidities (i.e., respiratory failure, cardiac disease), or to both. Conclusions Use of succinylcholine in children with dystrophinopathy is contraindicated. These patients have significant comorbidities and are frequently undergoing extensive operations; complications related to these factors can develop, as evidenced by our series. These complications may occur with use of volatile and nonvolatile anesthetics. However, because most of our patients were older than 8 years at the time of surgery, our observation cannot be generalized to younger dystrophin‐deficient children.
GFPT1-myasthenia

Neurology | June 22, 2013 | Volume: 81 | Issue: 4 | Pages: 370-378

10.1212/wnl.0b013e31829c5e9c | PMID 23794683