This article reviews the various rheumatologic disorders that have neurologic complications and manifestations.Recent advances have improved the understanding of the true epidemiology of many rheumatologic diseases and their complications. Many years of observation have clarified findings even in rarer disorders. Classification and diagnostic criteria have been updated and validated. As newer pharmacologic agents have become available, new information regarding efficacy and toxicity has emerged.Rheumatologic disorders are common, as can be their neurologic complications. In many instances, these complications are treatable, but clinicians' understanding of the underlying disorder, its neurologic risks, and the risk of therapy is required.
A 45-year-old man underwent rotator cuff surgery and developed fatigue and generalized myalgia postoperatively. After 4 weeks of mild symptoms, he experienced severe muscle aches and bilateral leg weakness after walking 1.5 miles, prompting him to seek medical attention.
Dysferlinopathy is an uncommon, progressive muscular dystrophy that has a wide phenotypic variability and primarily supportive management (Nguyen et al., 2007; Narayanaswami et al., 2014). Amyloid myopathy is a distinct, rare disorder that can present similarly to inflammatory myopathies and requires a high clinical suspicion for early intervention to prolong survival. Amyloid myopathy is typically associated with other systemic manifestations of amyloidosis, but rare cases of isolated amyloid myopathy have been described (Mandl et al., 2000; Hull et al., 2001). Positive Congo red stains on tissue biopsy remain the gold standard for diagnosis (Spuler et al., 1998; Karacostas et al., 2005). A high clinical suspicion and meticulous diagnostic workup that includes novel techniques are necessary for identifying these rare disorders. We report a middle-aged man with progressive leg muscle weakness who was initially treated as having amyloid myopathy but was later diagnosed as having dysferlinopathy by Whole Exome Sequencing (WES) analysis. We also report a novel missense mutation (c.959G>C) to help correlate in any patient with presumed dysferlinopathy and to add to the already known genotype of this disorder.
The patient first noticed elbow contractures in childhood, and had always had small biceps muscles. He was never able to run as fast as his peers, and described a sensation of muscle tightening if he tried to run or move quickly, but was unaware of other weakness or functional limitation.
At age 44 years, during preoperative assessment for an inguinal hernia repair, he was found to be in asymptomatic atrial flutter and was placed on warfarin. He underwent successful cardioversion, but was again in atrial flutter 2 months later. He was referred to Mayo Clinic, where atrial fibrillation with right bundle branch block and left anterior fascicular block was diagnosed. Transesophageal echocardiogram at that time was normal apart from a patent foramen ovale with bidirectional shunting. He was cardioverted successfully to normal sinus rhythm with first-degree atrioventricular block, right bundle branch block, and left anterior fascicular block.
Five years later, routine serologic evaluation revealed mildly elevated aspartate aminotransferase (AST) and alanine aminotransferase (ALT), which remained elevated for 1 year, suspected to be related to his liver, so he returned to Mayo Clinic for gastroenterologic evaluation. During this evaluation, serum creatine kinase (CK) was found to be elevated at 1,146 U/L (normal 52–336 U/L), which prompted neurologic referral.
The patient was an active hog farmer. He routinely rode a stationary exercise bike for 35 minutes each night at a rate of 30–32 miles per hour without difficulty. He had recently noticed problems carrying heavy bales or feed sacks, and had difficulty lifting up to 50 pounds past the level of his chest. He developed tightness in his leg muscles if he carried 30–40 pounds up stairs. He denied muscle pain, new muscle atrophy, or episodes of dark urine. He had no difficulty squatting or rising from chairs, speaking, chewing, or swallowing …
Important clues in the recognition of individuals with dystrophin gene mutations are illuminated in this case report. In particular, this report seeks to broaden the perspective of early signs and symptoms of a potentially life-limiting genetic disorder. This group of disorders is generally considered to be a pediatric muscular dystrophy when in actual fact, this case report may represent a spectrum of subclinically affected adults. We present the diagnostic saga of a 34-year-old Caucasian man who had two liver biopsies for elevated liver enzymes and 16 years later presented with a cardiac arrhythmia amidst an emergent appendectomy which finally led to his specific genetic diagnosis. This genetic disorder can affect more than one organ, and in our patient affected both skeletal and cardiac muscle. Furthermore, liver function tests when elevated may erroneously implicate a liver disorder when they actually reflect cardiac and skeletal muscle origin. Presented here is a patient with Becker's muscular dystrophy and cardiomyopathy.
Pathogenic variants in ryanodine receptor 1 (RYR1, MIM# 180901) are the cause of congenital myopathy with fiber-type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies.We present a patient with global developmental delay, hypotonia, myopathy, joint hypermobility, and multiple other systemic complaints that were noted early in life. Later she was found to have multiple bone deformities involving her spine, with severe scoliosis that was corrected surgically. She was also diagnosed with ophthalmoplegia, chronic hypercapnic respiratory failure, and hypertension. At 22 years of age she presented to the genetics clinic with a diagnosis of mitochondrial myopathy and underwent whole exome sequencing (WES).Whole exome sequencing revealed two novel compound heterozygous variants in RYR1 (c.7060_7062del, p.Val2354del and c.4485_4500del, p.Tyr1495X).Review of her clinical, pathologic, and genetic findings pointed to a diagnosis of a congenital myopathy with fiber-type disproportion.
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