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]

Differential diagnosis and investigation of respiratory muscle weakness according to clinical presentation Patients presenting with respiratory muscle weakness will typically have nocturnal symptoms including orthopnea, sleep disruption, and headache [dovepress.com]

The onset usually occurs in adult life (between the second and fourth decade) but may be congenital or present in early childhood. [medlink.com]

Distal muscle weakness is present in about 80% of individuals. [ncbi.nlm.nih.gov]

Patients typically present with proximal muscle weakness of legs more than arms, with no sensory involvement. [clevelandclinicmeded.com]

• Respiratory Abnormalities

  In the process of genetic testing of patients with myofibrillar myopathy (MFM) we encountered familial and sporadic cases of skeletal myopathy with or without associated respiratory abnormalities who lack mutations in MFM-associated genes [ 26, 27 ]. [bmcneurol.biomedcentral.com]

• Suggestibility

  Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. [books.google.com]

  Two reports by Palmio et al 1 and Pfeffer et al 2 suggest that hereditary myopathy with early respiratory failure (HMERF) may not be rare and is distributed worldwide. [jnnp.bmj.com]

  Acuteness of symptoms: Weakness over hours suggests a toxic cause or episodic paralysis. Weakness developing over days - consider dermatomyositis or rhabdomyolysis. Weakness over weeks suggests polymyositis, steroid myopathy, endocrine myopathy. [patient.info]

  These results suggested that this rare mutation in TTN segregated with the disease in this family. [nature.com]

  A combination of distal and proximal weakness, cardiomyopathy, peripheral neuropathy, and autosomal dominant inheritance should suggest this disorder ( Nakano et al 1996 ). [medlink.com]

You may need treatment in intensive care unit at a hospital. Chronic respiratory failure can often be treated at home. But if your chronic respiratory failure is severe, you might need treatment in a long-term care center. [medlineplus.gov]

Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. [books.google.com]

In acquired myopathies, treatment is targeted toward the underlying cause. Treatment of statin myopathies is dependent on creatine phosphokinase levels and degree of muscle symptoms. Consider lower doses when initiating statin therapy. [clevelandclinicmeded.com]

You may receive oxygen therapy and other treatment to help you breathe. NIH: National Heart, Lung, and Blood Institute Acute respiratory distress syndrome (Medical Encyclopedia) Respiratory acidosis (Medical Encyclopedia) [ Read More ] [icdlist.com]

Another protein, neural cell adhesion molecule is under-sialyated in people with IBM, but as of 2016 it had no known role in muscle function. [1] Treatment [ edit ] Treatment is palliative, not curative (as of 2009). [16] Treatment options for lower limb [en.wikipedia.org]

Prognosis This depends on the specific diagnosis. The primary disorders are incurable conditions with varied prognosis. Secondary myopathy may be corrected by treating the underlying cause. [patient.info]

Prognosis [ edit ] A 2009 review noted that muscle weakness usually begins after age 20 and after 20–30 years, the person usually requires a wheel chair for mobility. [en.wikipedia.org]

Prognosis of amyotrophic lateral sclerosis with respiratory onset. J Neurol Neurosurg Psychiatry. 2007;78(6):629–631. 10. Brooks BR, Miller RG, Swash M, Munsat TL. [dovepress.com]

In cases suspected to be a primary inflammatory myopathy, specific autoantibodies can be considered to determine the prognosis and rule out associated conditions. [clevelandclinicmeded.com]

ALS with respiratory onset: Clinical features and effects of non-invasive ventilation on the prognosis. Amyotroph Lateral Scler. 2010; 11 :379–82. [ PubMed : 20001486 ] Hedberg C, Melberg A, Dahlbom K, Oldfors A. [ncbi.nlm.nih.gov]

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

^ Carrillo N, Malicdan MC, Huizing M (2018) GNE myopathy: Etiology, diagnosis, and therapeutic challenges. Neurotherapeutics doi: 10.1007/s13311-018-0671-y ^ "Inclusion body myopathy 3". NIH Genetic and Rare Diseases Information Center. [en.wikipedia.org]

Oculopharyngodistal myopathy This condition is associated with both autosomal dominant and recessive inheritance, and the genetic etiology is unknown. 12 Respiratory failure in ambulant patients is common in this condition, and clinical presentation includes [dovepress.com]

However, the underlying genetic etiology in this family was unknown. The aim of this study was to determine the genetic cause in this family. To identify the responsible genetic mutation, we performed linkage analysis and whole-exome sequencing. [nature.com]

Prevalence The prevalence of HMERF is not known, but it is most likely underrecognized because of its broad phenotypic spectrum and the very recent discovery of its underlying genetic etiology. [ncbi.nlm.nih.gov]

3 Dutch families Gowers (Laing; Early adult onset distal myopathy type III; MPD1) 3, 4 ● Myosin heavy chain 7 (MYH7) ; Chromosome 14q11.2; Dominant or Sporadic Epidemiology Australian, German, Italian & Austrian families Genetics: MYH7 mutations Types [neuromuscular.wustl.edu]

Epidemiology These are all relatively uncommon diseases: Duchenne muscular dystrophy is easily the most common childhood-onset muscular dystrophy and affects 1 in 3,300 boys. [ 6 ] The prevalence of Duchenne muscular dystrophy is 63 cases per million. [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]

Jones & Jianbo Yao Canine Genetics and Epidemiology (2017) Performance comparison of two commercial human whole-exome capture systems on formalin-fixed paraffin-embedded lung adenocarcinoma samples Silvia Bonfiglio, Irene Vanni, Valeria Rossella, Anna [nature.com]

Références bibliographiques Arbogast S, Beuvin M, Fraysse B, et al. (2007) Oxydative stress in SEP N1-related myopathy:from pathophysiology to treatment. [link.springer.com]

The pathophysiology is still unclear. Cardiac involvement may occur. [en.wikipedia.org]

Back to Top Pathophysiology Disruption of the structural integrity and metabolic processes of muscle cells can result from genetic abnormalities, toxins, inflammation, infection, and hormonal and electrolyte imbalances. [clevelandclinicmeded.com]

Prevention Genetic counselling is, in some of the most common myopathies such as Duchenne muscular dystrophy, the only intervention that can prevent disease. In general: Give genetic counselling early. [patient.info]

In patients with an underlying metabolic myopathy, education about following a more moderate exercise program and avoiding intense exercise and fasting is necessary in preventing recurrent episodes. [clevelandclinicmeded.com]

Some of these conditions have disease-modifying treatment available, but even in the absence of such therapy, the management of respiratory failure with supportive care such as NIV and cough assist is recommended to improve quality of life and prevent [dovepress.com]

Exercises and activities suggested by physiotherapy consultation may be helpful to prevent continued loss of physical function due to inactivity. [ncbi.nlm.nih.gov]