In the second part of the project we performed a deep morphological analysis in our cohort of more than 100 patients presenting a congenital myopathy and we identified homogeneous cohorts of patients presenting neonatal or antenatal onset congenital myopathies [theses.fr]

Histologically, reducing bodies contain a substance that can reduce dihydroxydinaphthyl disulfide, confirming that sulfhydryl groups are present. [medlink.com]

Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. [books.google.com]

The male index patient was the most affected member presenting with rigid spine, followed by rapidly progressive muscle weakness. He died from the consequences of respiratory insufficiency at the age of 29.5 years. [ncbi.nlm.nih.gov]

• Severe Clinical Course

  All mutations in this residue were de novo and were associated with a severe clinical course, in particular in one male patient (H123Q). [ncbi.nlm.nih.gov]

• Hand Enlargement

  On the other hand, enlarged densely stained myonuclei, in addition to the presence of many reducing bodies, were striking on light microscopy, and chromatin condensation was seen on electron microscopy. [ncbi.nlm.nih.gov]

After complete workup, its frequency fell to 14%. [nature.com]

BAG3 should be included in the genetic workup of MFM patients, even in cases with an adult onset and a mild phenotype. [ojrd.biomedcentral.com]

Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders. [books.google.com]

Treatment for Myopathy Treatment for myopathies depends on the cause. The goals of myopathy treatment are to slow progression of the disease and relieve symptoms. [healthcommunities.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Management and treatment Management is supportive and should be multidisciplinary (involving a neurologist, orthopaedic surgeon and physical therapist). [orpha.net]

Patients whose disease is severe or who do not respond to standard treatment have other options. [rheumatology.org]

Prognosis The prognosis is generally severe: disease progression results in loss of ambulation, and death due to respiratory failure occurs even in patients with later-onset slowly progressive forms of the disease. Last updated: 4/28/2008 [rarediseases.info.nih.gov]

Prognosis The prognosis is generally severe: disease progression results in loss of ambulation, and death due to respiratory failure occurs even in patients with later-onset slowly progressive forms of the disease. [orpha.net]

Progressive dysphagia is associated with a poorer prognosis and a poorer quality of life. [patient.info]

Treatment and prognosis At the time of writing there is no definitive cure nor a standard course of treatment for Inclusion body myositis. The disease is generally unresponsive to corticosteroids and immunosuppressive drugs 4. [radiopaedia.org]

[…] muscles Difficulty with walking Weakness of upper leg muscles, hips, shoulders, and hands Usually no weakening of muscles on the front of thighs (quadriceps) Normal or slightly elevated creatine kinase levels No muscle weakness in the eyes or heart Prognosis [evolvegene.com]

The features described expand the clinical presentation of this myopathy, and may lead to a better understanding of its etiology. [ncbi.nlm.nih.gov]

Etiology Both sporadic and familial cases of RBM are caused by mutations in the gene encoding the four-and-a-half LIM domain 1 protein ( FHL1 ; Xq27.2). [rarediseases.info.nih.gov]

Rhabdomyolysis may also be seen with infectious etiologies, alcohol, and toxic exposures. [clevelandclinicmeded.com]

The treatment entails preventing other complications such as aspiration, and addressing the etiology more specifically. [nature.com]

Epidemiology The prevalence is unknown: although some sporadic cases have been described, only four families with RBM have been reported in the literature so far. [rarediseases.info.nih.gov]

Summary Epidemiology The prevalence is unknown: although some sporadic cases have been described, only four families with RBM have been reported in the literature so far. [orpha.net]

Interest has been stimulated by the finding that substances deposited in muscle are similar to those found in the brain in Alzheimer's disease - eg, amyloid precursor proteins. [ 7, 8 ] Epidemiology [ 1 ] Most cases present in patients aged over 50 years [patient.info]

Table 1 Clinical Features of Common Myopathies Myopathy Epidemiology Distribution of Weakness Other Systemic Manifestations Acquired Myopathies Dermatomyositis Female > male Peak incidence: children and ages 40–60 yr Symmetrical proximal muscle weakness [clevelandclinicmeded.com]

Idiopathic inflammatory myopathies: epidemiology, classification, and diagnostic criteria. Rheum Dis Clin North Am. 2002;28(4):723-41. Stevens AM, Sullivan KM, Nelson JL. Polymyositis as a manifestation of chronic graft-versus-host disease. [malattierare.regione.veneto.it]

This genetic progress has uncovered crucial pathophysiological concepts, thus redefining clinical phenotypes. [ncbi.nlm.nih.gov]

Although the pathophysiology remains poorly understood, inclusions may be involved in processing and assembling ribosomes. [medlink.com]

Magnesium deficiency: pathophysiologic and clinical overview. Am J Kidney Dis 24: 737 - 752, 1994. Dorup I. Magnesium and potassium deficiency. [arklatexurology.com]

[…] novel technique to assess muscle velocity recovery cycles (MVRC) that provides information on the polarisation state and T-tubule function of myocytes. 1 This study aimed to identify differences in MVRC parameters in sIBM patients that could provide pathophysiological [jnnp.bmj.com]

- Morphological analysis and investigation of pathophysiological mechanisms underlying the appearance of the protein aggregates in patients with RBM and other phenotype associated with mutation in the FHL1 gene. 2. - Clinical and morphological characterisation [theses.fr]

How can cardiomyopathy be prevented? You cannot prevent inherited types of cardiomyopathy. [heart.org]

INTRODUCTION Statins are the primary class of medication used to lower serum cholesterol concentration for both primary and secondary prevention of coronary disease. [uptodate.com]

Preventive treatment for permanent contraction of a muscle ( contractures ) includes physical therapy and bracing. There are currently no drugs available to prevent or treat contractures. [healthcommunities.com]

Prevention As of 2004 there is no way to prevent the genetic mutations that cause myopathies, nor are there ways to prevent metabolic and endocrine failures that result in myopathies. [healthofchildren.com]

Because patients taking prednisone are at risk for osteoporosis, they should receive proper treatment to prevent it. [rheumatology.org]