Gastrointestinal and nutritional care in pediatric neuromuscular disorders

Neuromuscular diseases(NMDs)affect the development and growth of the neuromuscular system in children.The pathology can occur anywhere along the neuromuscular pathway,from the brain to the nerves to the muscle fibers.These diseases have a profound impact on the quality of life not only of children but also of their families.The predominant manifestation in NMDs is hypotonia,which leads to muscle weakness and fatigue,reduced mobility,and decreased physical performance.However,multiple organ systems can be affected,with resulting orthopedic,cardiac,infectious,respiratory,and nutritional problems.Children with NMD present an increased risk for several dietary and feeding difficulties because of their neuromuscular diagnosis,presentation,and severity.These problems include chronic gastrointestinal issues(constipation,dysphagia,gastroesophageal reflux,and diarrhea),dysphagia,malnutrition,and body composition alterations.As a result,compared to the overall pediatric population,infants and children with NMD are more likely to be malnourished,ranging from failure to thrive to overweight or obesity.Disease-specific guidelines vary in level of detail and recommendations for dietary management.Overall,nutritional data available are sparse,with the exception of Duchenne muscular dystrophy,spinal muscular atrophy,and congenital muscular dystrophy.The purpose of this review is to describe the spectrum of nutritional challenges in children with NMD and to summarize the main dietary and gastrointestinal recommendations for each neuromuscular disorder to provide guidance for daily clinical practice.

Tongue dysfunction in neurological and neuromuscular disorders: A narrative literature review

Evaluation of oral function is useful for tracking longitudinal changes in swallowing function. Using videofluoroscopic(VF) images, we can evaluate swallowing function, but it is extremely difficult to quantitatively evaluate the oral phase. Recently, several studies have tried to quantitatively assess tongue function by analyzing tongue movement on VF images, to measure tongue thickness by ultrasonography, and to measure tongue pressure as surrogate for tongue strength. In this review article,the current state of quantitative assessments of tongue function for identification and management of dysphagia in patients with neuromuscular and other neurological disorders(NNMD) has been outlined. Disturbed bolus transport in patients with NNMD has been quantitatively measured on VF images by analyzing tongue base movement and bolus transport from the mouth to the pharynx. Enlarged tongue in Duchenne muscular dystrophy patients were observed by measuring the transverse width of the tongue on ultrasound. Tongue pressures that were measured using a handheld probe in NNMD patients were less than half of those in healthy subjects. More studies are needed to develop guidelines what types of tongue dysfunction give an indication of adjusting diet and introducing tube feeding to NNMD patients.

Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy

Myofibrillar myopathies(MFMs)are rare genetic and slowly progressive neuromuscular disorders.Several pathogenic mutations have been reported in MFM-related genes including DES,CRYAB,MYOT,LDB3 or ZASP,FLNC,BAG3,FHL1 and DNAJB6.Although MFMs is commonly inherited in an autosomal dominant manner,the inheritance pattern and novel mutated genes are not thoroughly elucidated in some cases.Here,we report discovery of a novel nonsense mutation in a 29-year-old Iranian male patient with motor disorders and deformity in his lower limbs.His parents are second cousins.Hereditary Motor Sensory Neuropathy as initial genetic diagnosis was ruled out.Whole exome sequencing using NGS on Illumina Hi-Seq4000 platform was performed to identify the disease and possible mutated gene(s).Our data analysis identified a homozygous nonsense unreported c.C415T(p.R139X)variant on kyphoscoliosis peptidase(KY)gene(NM_178554:exon4).Sanger sequencing of this mutation has been performed for his other related family members.Sequencing and segregation analysis was confirmed the NGS results and autosomal recessive inheritance pattern of the disease.