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A Preliminary Videofluoroscopic Investigation of Swallowing Physiology and Function in Individuals with Oculopharyngeal Muscular Dystrophy (OPMD)

This study sought to describe the pathophysiology of dysphagia in a small sample of patients with OPMD using a videofluoroscopy examination (VFSS) involving 3  × 5 mL boluses of thin liquid barium (22% w/v). The aim of this study is to extend what is known about the pathophysiology of dysphagia in OPMD, by quantifying changes in swallow timing, kinematics, safety, and efficiency, measured from VFSS. This study is a secondary analysis of baseline VF SS collected from 11 adults (4 male), aged 48–62 (mean 57) enrolled in an industry-sponsored phase 2 therapeutic drug trial. Blinded raters scored the VFSS recordings for safety [Penetration-Aspiration Scale (PAS)], efficiency [Normalized Residue Ratio Scale (NRRS)], timing [Pharyngeal Transit Tim e (PTT), Swallow Reaction Time (SRT), Laryngeal Vestibule Closure Reaction Time (LVCrt), Upper Esophageal Sphincter Opening Duration (UESD)], and kinematics (hyoid movement, pharyngeal constriction, UES opening width). Impairment thresholds from existing literature were defined to characterize swall owing physiology and function. Further, Fisher’s Exact tests and Pearson’s correlations were used to conduct a preliminary exploration of associations between swallowing physiology (e.g., kinematics, timing) and function (i.e., safety, efficiency). Compared to published norms, we identified sign ificant differences in the degree of maximum pharyngeal constriction, hyoid movement distance and spee...
Source: Dysphagia - Category: Speech-Language Pathology Source Type: research

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Condition:   Duchenne Muscular Dystrophy Interventions:   Drug: Casimersen;   Drug: Golodirsen Sponsor:   Sarepta Therapeutics Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Development of muscular dystrophy in a CRISPR-engineered mutant rabbit model with frame-disrupting ANO5 mutations, Published online: 22 May 2018; doi:10.1038/s41419-018-0674-yDevelopment of muscular dystrophy in a CRISPR-engineered mutant rabbit model with frame-disrupting ANO5 mutations
Source: Cell death and disease - Category: Internal Medicine Authors: Source Type: research
Comprehensive new resources guide clinicians in all settings to provide optimal care to patients with Duchenne muscular dystrophy.CDC Expert Commentary
Source: Medscape Today Headlines - Category: Consumer Health News Tags: Neurology & Neurosurgery Commentary Source Type: news
Discussion Leg pain in children has a broad differential diagnosis and includes more innocuous problems such as growing pains and transient synovitis but also more serious problems including neurological diseases or malignancy. Occult or self-limited trauma are also common causes. A review can be found here. Limping can be painful or painless and has its own differential diagnosis which can overlap with leg pain. A differential diagnosis for limping can be found here. Muscle weakness also has its’ own differential diagnosis which can be found here. Learning Point Benign acute childhood myositis (BACM) has other names...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
External ophthalmoplegia is seen in a wide variety of neuromuscular disorders including congenital myopathies, mitochondrial disorders, congenital myasthenic syndromes, and oculopharyngeal muscular dystrophy. A subset of patients with external ophthalmoplegia and variable degrees of skeletal muscle weakness have been found to harbor MYH2 mutations.[1] Autosomal dominant (AD) mutations in MYH2, have classically presented with congenital joint contractures that resolve with time, adolescent onset external ophthalmoplegia, and progressive proximal weakness.
Source: Neuromuscular Disorders - Category: Neurology Authors: Tags: Case report Source Type: research
We present a male patient of 49 years old, with symptoms of muscle weakness beginning in childhood and of very slowly progression. At the age of 42, the neurological examination revealed proximal lower limb muscle weakness and contractures of fingers flexors muscles, positive Gowers manoeuvre and a waddling gait. Serum creatine kinase (CK) values were slightly elevated, electromyographic study revealed myopathic changes and muscle MRI of the lower limbs showed a specific pattern of muscle involvement, with peripheral fat infiltration in vastus lateralis and intermedius and anterocentral infiltration in rectus femoris. Resp...
Source: Acta Myologica - Category: Neurology Tags: Acta Myol Source Type: research
Conclusion: A multi-slice ordinal MRI grading scale revealed that muscles are not uniformly affected, with more advanced disease visible near the tendons in a primarily ambulatory population with DMD. A geographically comprehensive evaluation of the heterogeneously affected muscle in boys with DMD may more accurately assess disease involvement. PMID: 29774305 [PubMed - in process]
Source: Acta Myologica - Category: Neurology Tags: Acta Myol Source Type: research
We report the first case of complete resolution of left atrial appendage thrombosis with oral dabigatran etexilate in a myotonic dystrophy type I patient with atrial fibrillation scheduled for transesophageal echocardiogram-guided direct current cardioversion. PMID: 29770366 [PubMed - in process]
Source: Acta Myologica - Category: Neurology Tags: Acta Myol Source Type: research
Authors: Sivitskaya LN, Danilenko NG, Vaikhanskaya TG, Kurushka TV, Davydenko OG Abstract Three cases of delated cardiomyopathy (DCM) with conduction defects (OMIM 115200), limb girdle muscular dystrophy 1B (OMIM 159001) and autosomal dominant Emery-Dreifuss muscular dystrophy 2 (OMIM 181350), all associated with different LMNA mutations are presented. Three heterozygous missense mutations were identified in unrelated patients - p.W520R (c.1558T> C), p.T528R (с.1583С> G) and p.R190P (c.569G> C). We consider these variants as pathogenic, leading to isolated DCM with conduction defects or syndromic DCM for...
Source: Acta Myologica - Category: Neurology Tags: Acta Myol Source Type: research
Authors: Vittonatto E, Boschi S, CHIADò-Piat L, Ponzalino V, Bortolani S, Brusa C, Rainero I, Ricci F, Vercelli L, Mongini T Abstract Intrafibral vacuoles are the morphological hallmark in a wide variety of human skeletal muscle disorders with different etiology. In most cases, differential diagnosis is feasible with a routine histochemical work up of muscle biopsy. Ultrastructural analysis is an important confirmatory tool, but it is not widely available. Immunohistochemical stainings for p62, LAMP2 and LC3 are commonly available as tissutal marker for autophagy. We compared the immunohistochemical patterns...
Source: Acta Myologica - Category: Neurology Tags: Acta Myol Source Type: research
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