Presentation and Management Patterns of Lower Urinary Tract Symptoms in Adults Due to Rare Inherited Neuromuscular Diseases

Roth, Joshua D.; Pariser, Joseph J.; Stout, Thomas E.; Misseri, Rosalia; Elliott, Sean P.

doi:10.1016/j.urology.2019.09.039

Cited by 11 publications

(7 citation statements)

References 24 publications

(35 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In a retrospective study, it was reported that patients with inherited neuromuscular diseases (Muscular dystrophies and Spinal muscular atrophy) develop urinary tract symptoms. 12 The most common presenting complaint was urinary incontinence in this study, as seen in our study group. 12 Besides these, additional studies are imperative to set the appropriate guidelines for the management of pregnancy and address reproductive health issues in them.…”

Section: Discussionsupporting

confidence: 54%

“…12 The most common presenting complaint was urinary incontinence in this study, as seen in our study group. 12 Besides these, additional studies are imperative to set the appropriate guidelines for the management of pregnancy and address reproductive health issues in them. The addition of OBGYN physicians to the multidisciplinary neuromuscular disease clinics, where these patients are getting treated can be considered as the survival and quality of life improve in many of our neuromuscular patients.…”

Section: Discussionsupporting

confidence: 54%

See 1 more Smart Citation

Obstetric-Gynecological Complications in Neuromuscular Disorders

Digala

Haider

Govindarajan

2020

rrnmf

View full text Add to dashboard Cite

Background and Objective: The data on the obstetric and gynecological complications in patients diagnosed with neuromuscular diseases is very limited and is primarily obtained from various case reports, series, and small studies. The objective of our study was to analyze the prevalence of these complications in a large cohort of patients with various neuromuscular diseases. Methods: This study is a retrospective chart review of patients diagnosed with various neuromuscular diseases at the University of Missouri, Columbia, from 2012 to 2017. We included patients who have at least one year follow up with us. We collected data on patient demographics, neuromuscular disease diagnosed, obstetric complications, and gynecologic complications. Data are reported as means ± SEM, and the results reported using prevalence rates. Results: Ninety-five female patients were identified. Among them, 97% were Caucasian, and 3% were African-American with a mean age of 47.96 years. Neuromuscular diseases identified among them are Myasthenia Gravis (44%), Muscular Dystrophy (23%), Amyotrophic Lateral Sclerosis-ALS (16%), Charcot-Marie-Tooth disease-CMT (10%), and Spinal Muscular atrophy- SMA (7%). The majority of the patients reviewed have had no obstetric complications- (89.40%). The most common obstetric complication recorded was C-section (8.40%). 41% of women did not have any gynecological complaints. Urine incontinence (24.20%) is the most common complication. Conclusion: C-sections and urinary incontinence are common obstetric and gynecological events seen in women with neuromuscular disease.

show abstract

Section: Discussionsupporting

confidence: 54%

Section: Discussionsupporting

confidence: 54%

Obstetric-Gynecological Complications in Neuromuscular Disorders

Digala

Haider

Govindarajan

2020

rrnmf

View full text Add to dashboard Cite

show abstract

“… 66 Surveillance for urinary retention is important. 69 70 Biliary tract disease is seen in young adulthood at rates similar to the general population, but due to communication impairment in RTT the presenting symptoms may be limited to irritability, weight loss and vomiting. 71 72 Studies of longevity in RTT demonstrate survival of many into middle age, underscoring the need for the early development of a comprehensive, thoughtful plan for transitioning to adulthood.…”

Section: Resultsmentioning

confidence: 99%

Consensus guidelines on managing Rett syndrome across the lifespan

Armstrong

Marsh

et al. 2020

bmjpo

View full text Add to dashboard Cite

BackgroundRett syndrome (RTT) is a severe neurodevelopmental disorder with complex medical comorbidities extending beyond the nervous system requiring the attention of health professionals. There is no peer-reviewed, consensus-based therapeutic guidance to care in RTT. The objective was to provide consensus on guidance of best practice for addressing these concerns.MethodsInformed by the literature and using a modified Delphi approach, a consensus process was used to develop guidance for care in RTT by health professionals.ResultsTypical RTT presents early in childhood in a clinically recognisable fashion. Multisystem comorbidities evolve throughout the lifespan requiring coordination of care between primary care and often multiple subspecialty providers. To assist health professionals and families in seeking best practice, a checklist and detailed references for guidance were developed by consensus.ConclusionsThe overall multisystem issues of RTT require primary care providers and other health professionals to manage complex medical comorbidities within the context of the whole individual and family. Given the median life expectancy well into the sixth decade, guidance is provided to health professionals to achieve current best possible outcomes for these special-needs individuals.

show abstract

“…VCP patients may experience urinary or anal incontinence/dysfunction as reported in isolated cases [ 26 , 68 ], however is underrecognized. In other neuromuscular disorders, urinary and anal dysfunction are present and can significantly lower the quality of life for patients [ 74 – 76 ]. Screening for these symptoms during annual examinations through patient survey or interview may be appropriate and help to discern the etiology of the incontinence.…”

Section: Urinary and Anal Incontinencementioning

confidence: 99%

Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy

Korb

Peck²,

Alfano

et al. 2022

Orphanet J Rare Dis

View full text Add to dashboard Cite

Valosin-containing protein (VCP) associated multisystem proteinopathy (MSP) is a rare inherited disorder that may result in multisystem involvement of varying phenotypes including inclusion body myopathy, Paget’s disease of bone (PDB), frontotemporal dementia (FTD), parkinsonism, and amyotrophic lateral sclerosis (ALS), among others. An international multidisciplinary consortium of 40+ experts in neuromuscular disease, dementia, movement disorders, psychology, cardiology, pulmonology, physical therapy, occupational therapy, speech and language pathology, nutrition, genetics, integrative medicine, and endocrinology were convened by the patient advocacy organization, Cure VCP Disease, in December 2020 to develop a standard of care for this heterogeneous and under-diagnosed disease. To achieve this goal, working groups collaborated to generate expert consensus recommendations in 10 key areas: genetic diagnosis, myopathy, FTD, PDB, ALS, Charcot Marie Tooth disease (CMT), parkinsonism, cardiomyopathy, pulmonology, supportive therapies, nutrition and supplements, and mental health. In April 2021, facilitated discussion of each working group’s conclusions with consensus building techniques enabled final agreement on the proposed standard of care for VCP patients. Timely referral to a specialty neuromuscular center is recommended to aid in efficient diagnosis of VCP MSP via single-gene testing in the case of a known familial VCP variant, or multi-gene panel sequencing in undifferentiated cases. Additionally, regular and ongoing multidisciplinary team follow up is essential for proactive screening and management of secondary complications. The goal of our consortium is to raise awareness of VCP MSP, expedite the time to accurate diagnosis, define gaps and inequities in patient care, initiate appropriate pharmacotherapies and supportive therapies for optimal management, and elevate the recommended best practices guidelines for multidisciplinary care internationally.

show abstract

Presentation and Management Patterns of Lower Urinary Tract Symptoms in Adults Due to Rare Inherited Neuromuscular Diseases

Cited by 11 publications

References 24 publications

Obstetric-Gynecological Complications in Neuromuscular Disorders

Obstetric-Gynecological Complications in Neuromuscular Disorders

Consensus guidelines on managing Rett syndrome across the lifespan

Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy

Contact Info

Product

Resources

About