Bacterial overgrowth syndrome in myotonic muscular dystrophy is potentially treatable

Tarnopolsky, Mark A.; Pearce, Erin; Matteliano, Andre; James, Cindy; Armstrong, David

doi:10.1002/mus.21787

Cited by 34 publications

(14 citation statements)

References 14 publications

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“…Other gastrointestinal symptoms are treated with antacid medications, prokinetic agents, laxatives, and cholecystectomy although again, clear guidelines are lacking [71,75]. For symptoms of small intestinal bacterial overgrowth, treatment with antibiotics, such as ciprofloxacin, may be effective [77].…”

Section: Gastrointestinalmentioning

confidence: 99%

Myotonic Dystrophies: Targeting Therapies for Multisystem Disease

2018

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Myotonic dystrophy is an autosomal dominant muscular dystrophy not only associated with muscle weakness, atrophy, and myotonia but also prominent multisystem involvement. There are 2 similar, but distinct, forms of myotonic dystrophy; type 1 is caused by a CTG repeat expansion in the DMPK gene, and type 2 is caused by a CCTG repeat expansion in the CNBP gene. Type 1 is associated with distal limb, neck flexor, and bulbar weakness and results in different phenotypic subtypes with variable onset from congenital to very late-onset as well as variable signs and symptoms. The classically described adult-onset form is the most common. In contrast, myotonic dystrophy type 2 is adult-onset or late-onset, has proximal predominant muscle weakness, and generally has less severe multisystem involvement. In both forms of myotonic dystrophy, the best characterized disease mechanism is a RNA toxic gain-of-function during which RNA repeats form nuclear foci resulting in sequestration of RNA-binding proteins and, therefore, dysregulated splicing of premessenger RNA. There are currently no disease-modifying therapies, but clinical surveillance, preventative measures, and supportive treatments are used to reduce the impact of muscular impairment and other systemic involvement including cataracts, cardiac conduction abnormalities, fatigue, central nervous system dysfunction, respiratory weakness, dysphagia, and endocrine dysfunction. Exciting preclinical progress has been made in identifying a number of potential strategies including genome editing, small molecule therapeutics, and antisense oligonucleotide-based therapies to target the pathogenesis of type 1 and type 2 myotonic dystrophies at the DNA, RNA, or downstream target level.

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Section: Gastrointestinalmentioning

confidence: 99%

Myotonic Dystrophies: Targeting Therapies for Multisystem Disease

2018

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“…There exists no consensus on the most efficacious dose or duration of treatment. 8,41,89,91 In one study, 70% of patients with SIBO showed a good response to ciprofloxacin, while a regimen of amoxicillin-clavulanic acid and cefoxitin eradicated more than 90% of strains isolated from SIBO patients. 41,92 There has been a growing interest in the use of rifaximin (a non-absorbed rifamycin analogue) in SIBO management, especially in patients with IBS.…”

Section: Treatment For Sibomentioning

confidence: 99%

“…8,41,89,91 In one study, 70% of patients with SIBO showed a good response to ciprofloxacin, while a regimen of amoxicillin-clavulanic acid and cefoxitin eradicated more than 90% of strains isolated from SIBO patients. 41,92 There has been a growing interest in the use of rifaximin (a non-absorbed rifamycin analogue) in SIBO management, especially in patients with IBS. 40,[93][94][95][96][97] A systematic review demonstrated the efficacy and short-term safety of rifaximin for IBS patients.…”

Section: Treatment For Sibomentioning

confidence: 99%

Review article: small intestinal bacterial overgrowth - prevalence, clinical features, current and developing diagnostic tests, and treatment

Grace

Shaw

Whelan

et al. 2013

Aliment Pharmacol Ther

185

142

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Summary Background The symptoms and signs of small intestinal bacterial overgrowth (SIBO) are often identical to a variety of diseases and can lead to diagnostic confusion. Aims To review the diagnostic options for SIBO and present new investigative options for the condition. Methods A literature search was performed on MEDLINE, EMBASE and Web of Science for English articles and abstracts. Search terms included free text words and combinations of the following terms ‘small intestinal bacterial overgrowth’, ‘small bowel bacterial overgrowth’, ‘diagnostic tests’, ‘treatment’, ‘antibiotics’, ‘probiotics’, ‘metabonomics’, ‘proton nuclear magnetic resonance spectroscopy’, ‘electronic nose’ and ‘field asymmetric ion mobility spectrometry’. Results All of the available methods to test for SIBO have inherent limitations and no ‘gold‐standard’ diagnostic test for the condition exists. Accurate diagnosis of SIBO requires identification of bacterial species growing inappropriately within the small intestine and symptom response to antibiotics. Proton nuclear magnetic resonance spectroscopy, electronic nose technology and/or field asymmetric ion mobility spectrometry may represent better investigative options for the condition. Conclusions Novel diagnostic options are needed to supplement or replace available tests.

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“…Studies suggest that the etiology of HAEC has a microbial component, as both pathogenic bacteria [ 13 ] and alterations in commensal communities [ 9 , 10 ] have been linked to HAEC. Interestingly, patients with a broad range of human diseases, such as inflammatory bowel disease (IBD), cystic fibrosis [ 14 ], diabetes [ 15 ], malnutrition [ 16 ], and myotonic muscular dystrophy [ 17 , 18 ], also experience debilitating gastrointestinal (GI) symptoms. Although cause and effect are difficult to determine, these diseases are associated with both small intestinal bacterial overgrowth, a clinical syndrome often seen with impaired intestinal motility, and an altered microbiota, suggesting that impaired ENS function could be a driver of dysbiosis.…”

Section: Introductionmentioning

confidence: 99%

The enteric nervous system promotes intestinal health by constraining microbiota composition

et al. 2017

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Sustaining a balanced intestinal microbial community is critical for maintaining intestinal health and preventing chronic inflammation. The gut is a highly dynamic environment, subject to periodic waves of peristaltic activity. We hypothesized that this dynamic environment is a prerequisite for a balanced microbial community and that the enteric nervous system (ENS), a chief regulator of physiological processes within the gut, profoundly influences gut microbiota composition. We found that zebrafish lacking an ENS due to a mutation in the Hirschsprung disease gene, sox10, develop microbiota-dependent inflammation that is transmissible between hosts. Profiling microbial communities across a spectrum of inflammatory phenotypes revealed that increased levels of inflammation were linked to an overabundance of pro-inflammatory bacterial lineages and a lack of anti-inflammatory bacterial lineages. Moreover, either administering a representative anti-inflammatory strain or restoring ENS function corrected the pathology. Thus, we demonstrate that the ENS modulates gut microbiota community membership to maintain intestinal health.

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Bacterial overgrowth syndrome in myotonic muscular dystrophy is potentially treatable

Cited by 34 publications

References 14 publications

Myotonic Dystrophies: Targeting Therapies for Multisystem Disease

Myotonic Dystrophies: Targeting Therapies for Multisystem Disease

Review article: small intestinal bacterial overgrowth - prevalence, clinical features, current and developing diagnostic tests, and treatment

The enteric nervous system promotes intestinal health by constraining microbiota composition

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