scholarly journals Editorial: Strategies to Fight Exercise Intolerance in Neuromuscular Disorders

2020 ◽  
Vol 11 ◽  
Author(s):  
Francesca Lanfranconi ◽  
Mauro Marzorati ◽  
Lucio Tremolizzo
Keyword(s):  
Neuromuscular Disorders ◽  
Exercise Intolerance ◽  
Editorial Strategies

scholarly journals Update Review about Metabolic Myopathies

Life ◽  
2020 ◽  
Vol 10 (4) ◽  
pp. 43
Author(s):  
Josef Finsterer
Keyword(s):  
Cell Metabolism ◽  
Neuromuscular Disorders ◽  
Age At Onset ◽  
Respiratory Muscles ◽  
Exercise Intolerance ◽  
Axial Muscles ◽  
Sequencing Technologies ◽  
Metabolic Myopathies ◽  
Muscle Breakdown ◽  
Enzymatic Pathways

The aim of this review is to summarize and discuss recent findings and new insights in the etiology and phenotype of metabolic myopathies. The review relies on a systematic literature review of recent publications. Metabolic myopathies are a heterogeneous group of disorders characterized by mostly inherited defects of enzymatic pathways involved in muscle cell metabolism. Metabolic myopathies present with either permanent (fixed) or episodic abnormalities, such as weakness, wasting, exercise-intolerance, myalgia, or an increase of muscle breakdown products (creatine-kinase, myoglobin) during exercise. Though limb and respiratory muscles are most frequently affected, facial, extra-ocular, and axial muscles may be occasionally also involved. Age at onset and prognosis vary considerably. There are multiple disease mechanisms and the pathophysiology is complex. Genes most recently related to metabolic myopathy include PGM1, GYG1, RBCK1, VMA21, MTO1, KARS, and ISCA2. The number of metabolic myopathies is steadily increasing. There is limited evidence from the literature that could guide diagnosis and treatment of metabolic myopathies. Treatment is limited to mainly non-invasive or invasive symptomatic measures. In conclusion, the field of metabolic myopathies is evolving with the more widespread availability and application of next generation sequencing technologies worldwide. This will broaden the knowledge about pathophysiology and putative therapeutic strategies for this group of neuromuscular disorders.

Chronic Fatigue and Acute Rhabdomyolysis

2016 ◽  
Author(s):  
Ros Quinlivan ◽  
Pascal Laforêt
Keyword(s):  
Behavioral Therapy ◽  
Neuromuscular Disorders ◽  
Chronic Fatigue ◽  
Exercise Intolerance ◽  
Fatigue Syndrome ◽  
Metabolic Myopathies ◽  
Acute Rhabdomyolysis ◽  
Life Threatening ◽  
Life Threatening Complication ◽  
Myasthenic Syndromes

Chronic fatigue syndrome is usually idiopathic, management involves a multi-disciplinary approach, advice on pacing activities and cognitive behavioral therapy. Metabolic myopathies that cause exercise intolerance may lead to a fatigue syndrome due to deconditioning, other neuromuscular disorders presenting with paroxysmal fatigue and weakness such as the myasthenic syndromes and channelopathies can occasionally be mistaken for a metabolic disorder. Acute rhabdomyolysis, a potentially life-threatening complication, has many causes both acquired and genetic. Urgent treatment is required and prevention of future episodes requires a careful search for an underlying genetic cause.

scholarly journals Inborn Errors of Energy Metabolism Associated with Myopathies

2010 ◽  
Vol 2010 ◽  
pp. 1-19 ◽  
Author(s):  
Anibh M. Das ◽  
Ulrike Steuerwald ◽  
Sabine Illsinger
Keyword(s):  
Energy Metabolism ◽  
Cardiac Muscle ◽  
Neuromuscular Disorders ◽  
Glycogen Storage ◽  
Exercise Intolerance ◽  
Acid Oxidation ◽  
Inborn Errors ◽  
Progressive Muscle Weakness ◽  
Glycogen Storage Diseases ◽  
Diagnostic Work

Inherited neuromuscular disorders affect approximately one in 3,500 children. Structural muscular defects are most common; however functional impairment of skeletal and cardiac muscle in both children and adults may be caused by inborn errors of energy metabolism as well. Patients suffering from metabolic myopathies due to compromised energy metabolism may present with exercise intolerance, muscle pain, reversible or progressive muscle weakness, and myoglobinuria. In this review, the physiology of energy metabolism in muscle is described, followed by the presentation of distinct disorders affecting skeletal and cardiac muscle: glycogen storage diseases types III, V, VII, fatty acid oxidation defects, and respiratory chain defects (i.e., mitochondriopathies). The diagnostic work-up and therapeutic options in these disorders are discussed.

Expression of myogenic regulatory factors (MRFs) in human neuromuscular disorders

1997 ◽  
Vol 23 (6) ◽  
pp. 475-482 ◽  
Author(s):  
M. Olive ◽  
J. A. Martinez-Matos ◽  
P. Pirretas ◽  
M. Povedano ◽  
C. Navarro ◽  
...  
Keyword(s):  
Neuromuscular Disorders ◽  
Myogenic Regulatory Factors ◽  
Regulatory Factors

Management of cardiac involvement in neuromuscular disorders

2006 ◽  
Vol 48 (10) ◽  
pp. 863
Author(s):  
Josef Finsterer ◽  
Claudia Stöllberger
Keyword(s):  
Cardiac Involvement ◽  
Neuromuscular Disorders
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