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Metabolic Myopathy

Metabolic Myopathies


Presentation

  • Atrophy of muscles, when present, is proportionate to the weakness. The deep tendon reflexes diminish and disappear with the progression of weakness. About 30% of patients present with respiratory failure.[emedicine.com]
  • Author information 1 Medical Department, Krankenanstalt Rudolfstiftung, Juchgasse, Wien, Österreich. claudia.stöllberger@chello.at Abstract A 32-year-old female patient presented with cardiac failure because of systolic dysfunction.[ncbi.nlm.nih.gov]
  • Special emphasis is placed on acutely presenting disorders and emergency situations. The rationale of the approaches presented in this book are based on extensive, collective clinical experience.[books.google.de]
Agitated Delirium
  • delirium, restraints Status asthmaticus Prolonged myoclonus or acute dystonia Crush Syndrome Compression by fallen weights Compression by body in prolonged coma Ischemia Arterial occlusion Cardioversion Coagulopathy in sickle cell disease or disseminated[neupsykey.com]

Workup

  • Seven of 19 patients with elevated CK consented to neurologic workup. Two of the 7 had elevated resting lactate.[ncbi.nlm.nih.gov]
  • However, a key diagnostic feature is the absence of a rise in serum venous lactate during the Forearm ischemic exercise test in Workup. Also, the cramp, when recorded by needle EMG, is silent (contracture).[emedicine.com]
  • Because these symptoms may be nonspecific and lack any clear temporal or anatomic pattern, their workup may entail costly and uninformative tests.[the-rheumatologist.org]
Hypoketotic Hypoglycemia
  • Infantile hypoketotic hypoglycemia is associated with cardiomegaly and hypotonia. Two of three patients have been reported by Hale et al ( 73 ).[annalsofneurosciences.org]
  • This is characterized by hypoketotic hypoglycemia and multiple organ malformations (eg, microgyria, neuronal heterotopia, renal cystic dysplasia, facial dysmorphism).[emedicine.com]
Short PR Interval
  • High QRS complex voltage and short PR interval are the most common findings.[emedicine.com]
  • The electrocardiogram (EKG) demonstrates characteristic, although not specific, changes, including a short PR interval, giant QRS complexes, and signs of biventricular hypertrophy in infantile AMD.[clinicalgate.com]

Treatment

  • Treatment varies greatly depending on the biochemical nature of the disease, and unfortunately no definitive treatments exist for metabolic myopathy.[ncbi.nlm.nih.gov]
  • Evidence-based treatment of metabolic myopathy Abstract Objective To evaluate the current treatments and possible adverse reactions of metabolic myopathy, and to develop the best solution for evidence-based treatment.[cjcnn.org]
  • Up-to-date innovative studies illustrate appropriate diagnosis approaches and latest practical treatments for soft tissue pain syndromes of all types.[books.google.de]
  • The diet, levels of physical activity and dietary supplements recommended for treatment will vary depending on the myopathy.[rheumatology.org]

Prognosis

  • Early diagnosis is important for prompt clinical management, improved outcome and prognosis.[neurology.org]
  • When present, seizures may be intractable and associated with a poor prognosis. A 10-month-old child presented with focal status epilepticus in association with a viral infection and a normal brain MRI.[bcmj.org]

Etiology

  • Not all muscle cramps, however, are related to metabolic muscle diseases and can be due to benign etiologies. When benign entities are ruled out and metabolic myopathy is suspected, the first diagnostic step is to perform an electromyogram.[bcm.edu]
  • Accordingly, metabolic myopathies can be etiologically classified into three broad categories: glycogen storage diseases (GSDs), fatty acid oxidation (FAO) disorders, and mitochondrial diseases.[neupsykey.com]
  • The etiologies of heritable myoglobinuria differ in adults compared with children.[clinicalgate.com]
  • Discussion The etiology of this entity is still unknown, and no general agreement exists regarding its pathogenesis. 1 , 4 , 6 , 7 In a review by Smack et al , 3 121 cases of TC were identified.[nature.com]
  • Metabolic myopathies are the most clearly defined and etiologically understood muscle disorders because their fundamental biochemical defects are known through recent developments in molecular biology and biochemistry.[emedicine.com]

Epidemiology

  • It gives compreensive coverage of the epidemiology, aetiology, and mechanism of disease, as well as clear, unambiguous coverage of the diagnosis, practical management and prevention of the entire spectrum of medical disorders.[books.google.de]
  • EPIDEMIOLOGY Metabolic myopathies are rare diseases.[neupsykey.com]
  • Sectors of interest are epidemiological and clinical-molecular correlation studies in mitochondrial diseases, assessment of biological and genetic markers in amyotrophic lateral sclerosis, Alzheimer’s disease and other genetic neuromuscular and neurodegenerative[rarediseases.org]
  • It appears that the general spectrum of myopathies described in the world literature is also seen in India, although the prevalence is difficult to ascertain, as there is very little published epidemiological data.[annalsofneurosciences.org]
Sex distribution
Age distribution

Pathophysiology

  • Understanding the metabolic changes associated with PAD is important in understanding the pathophysiology of claudication and in the development of novel therapeutic strategies.[ncbi.nlm.nih.gov]
  • There are major introductory sections on the scientific basis of disease; and in the system-based clinical sections genetic predisposition, pathophysiology, pathogenesis, molecular mechanisms, and cell biology are covered in depth for all significant[books.google.de]
  • Understanding of the pathophysiology underlying the metabolic myopathies provides unique insights into the normal regulation of muscle metabolism.[neuromuscular.dk]
  • Pathophysiology The pathophysiology of exercise intolerance in McArdle’s disease involves a combination of interconnected factors related to impaired ATP production from both aerobic and anaerobic glycolysis.[clinicalgate.com]
  • Recruitment Status : Recruiting First Posted : December 18, 2015 Last Update Posted : September 1, 2017 Sponsor: Information provided by (Responsible Party): Karen Lindhardt Madsen, Rigshospitalet, Denmark Brief Summary: This study aims to characterize the pathophysiological[clinicaltrials.gov]

Prevention

  • IPPV was recommended to prevent recurrent respiratory failure. Two of three patients who accepted home IPPV returned to full-time jobs. One patient, who decided against IPPV, died from CO2 narcosis several months after discharge.[ncbi.nlm.nih.gov]
  • Rehabilitation specialists can help determine appropriate exercise and stretching regimens to prevent muscle loss and maximize activity.[kennedykrieger.org]
  • It gives compreensive coverage of the epidemiology, aetiology, and mechanism of disease, as well as clear, unambiguous coverage of the diagnosis, practical management and prevention of the entire spectrum of medical disorders.[books.google.de]
  • Prolonged exercise should be avoided to prevent attacks of rhabdomyolysis.[emedicine.com]
  • Diagnosis, Prevention, and Management of Statin Adverse Effects and Intolerance: Proceedings of a Canadian Working Group Consensus Conference . Canadian Journal of Cardiology, Vol. 27, Issue. 5, p. 635.[cambridge.org]

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