Edit concept Question Editor Create issue ticket

Myopathy with Abnormal Lipid Metabolism


  • CRC Press, ٢٨‏/١١‏/٢٠٠٨ - 432 من الصفحات Already established as a 'classic' in the field, Clinical Tests of Respiratory Function presents an authoritative yet accessible account of this complex area, fusing the basic principles of respiratory physiology[books.google.com]
  • Disorders of the NMJ present more of a challenge. NMJ disorders may present with proximal muscle weakness similar to myopathies. Postsynaptic disorders (e.g., MG) typically have normal CMAP amplitudes at rest.[clinicalgate.com]
  • Depending on the underlying defect, some patients may present in infancy or early childhood, whereas others may not present until well into adulthood.[the-rheumatologist.org]
  • 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.medscape.com]
  • Very long chain acyl-co enzyme A deficiency presents clinicopathologically similar to CPT II deficiency.[annalsofian.org]
  • RESPIRATORY FUNCTION TESTS 397 Chapter 27 Use of Respiratory Function Tests 399 Color Insert 413 Back Cover 417 حقوق النشر حول المؤلف (2008) G.J Gibson, Professor of Respiratory Medicine, University of Newcastle upon Tyne; and Consultant Respiratory Physician[books.google.com]
  • *Medscape Business of Medicine Academy Survey, September 2015 Learn from Experienced Professionals Courses were developed especially for physicians by business health experts and experienced physicians.[medscape.org]
  • If needed, other physicians, such as pulmonologists, orthopedic surgeons, and cardiologists, will be consulted to provide expert advice on management of extra-muscular symptoms and complications.[kennedykrieger.org]
  • Most often, physicians diagnose metabolic myopathies by testing a sample of muscle tissue (biopsy), which is taken through a needle or with a small incision under local anesthesia.[rheumatology.org]
  • Olimpia Musumeci , Elena Pegoraro , Emanuele Rastelli , Filippo Maria Santorelli , Elisabetta Tasca , Daniela Tavian , Antonio Toscano , Corrado Angelini , Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian[onlinelibrary.wiley.com]
  • He was born to healthy, non-consanguineous Italian parents. He suffered from dropped head since the age of 66 ( Figure 1 ).[omicsonline.org]
  • Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients. Orphanet J Rare Dis. 2017;12(1):90. Gupta N, Gothwal S, Satpathy AK, et al.[rarediseases.org]
  • Adherence to statin treatment and health outcomes in an Italian cohort of newly treated patients: results from an administrative database analysis. Clin Ther. 2012 ; 34:190–199.[jaha.ahajournals.org]
  • In the muscular dystrophies, which tend to manifest in childhood or adolescence, dyspnea, cardiac abnormalities, contractures, scapular winging, calf hypertrophy, and skeletal deformities may be present in addition to slowly progressive weakness.[clevelandclinicmeded.com]
  • The most myopathic patients have noted increased dyspnea on exertion while on statins.[sdhva.com]
  • Very high triglyceride levels can also cause hepatosplenomegaly, paresthesias, dyspnea, and confusion. High levels of LDL can cause arcus corneae and tendinous xanthomas at the Achilles, elbow, and knee tendons and over metacarpophalangeal joints.[merckmanuals.com]
Respiratory Distress
  • Distress Syndrome 235 Chapter 14 Diffuse Parenchymal Lung Disease 242 Chapter 15 Pulmonary Vascular Disease 263 Chapter 23 Hepatic and Bowel Disease 365 CHapter 24 Metabolic and Endocrine Disorders 370 Chapter 25 Rheumatic and Connective Tissue Disorders[books.google.com]
  • There was no history of respiratory distress, bulbar weakness, cranial nerve disturbances, episodes of encephalopathy or cardiac symptoms. There was no family history of similar illness.[annalsofian.org]
Heart Disease
  • disease (e.g., those who had a history of coronary heart disease, diabetes, hypertension, and other coronary heart disease risk factors). 8-12 Four of these trials showed a 15% to 37% reduction in coronary heart disease events in those treated for 3.2[uspreventiveservicestaskforce.org]
  • disease (CHD) and stroke.[gugulipid.com]
  • Safety and efficacy of long‐term statin treatment for cardiovascular events in patients with coronary heart disease and abnormal liver tests in the Greek Atorvastatin and Coronary Heart Disease Evaluation (GREACE) Study: a post‐hoc analysis.[jaha.ahajournals.org]
  • Patients with an extensive family history of heart disease should also be screened by measuring Lp(a) levels.[merckmanuals.com]
  • Success and Proliferation of Statins Cholesterol lowering therapy with HMGCoA reductase inhibitors (statins) convincingly reduces death and myocardial infarction among patients with coronary heart disease Application of the National Cholesterol Education[sdhva.com]
Vascular Disease
  • Disease 263 Chapter 23 Hepatic and Bowel Disease 365 CHapter 24 Metabolic and Endocrine Disorders 370 Chapter 25 Rheumatic and Connective Tissue Disorders 384 Chapter 26 Psychogenic Dyspnoea 392 PART D INTERPRETATION OF RESPIRATORY FUNCTION TESTS 397[books.google.com]
  • Procedural approaches are reserved for patients with severe hyperlipidemia (LDL cholesterol 300 mg/dL ( 7.74 mmol/L) and no vascular disease.[merckmanuals.com]
  • Pulmonary vascular disease is probably more common than suspected.[err.ersjournals.com]
  • Genetically elevated C‐reactive protein and ischemic vascular disease. N Engl J Med. 2008 ; 359:1897–1908.[jaha.ahajournals.org]
Ectopia Lentis
  • These neurological problems include recurrent seizures (epilepsy), movement disorders, impaired speech (dysarthria), loss of sensation in the arms and legs (peripheral neuropathy), decline in intellectual function (dementia), hallucinations, and depression[icdlist.com]
  • […] labor-related complications Eyelid ptosis without extraocular muscle weakness Oculopharyngeal muscular dystrophy Relatively rare Rarely presents with distal muscle weakness Mainly manifests with ophthalmoparesis and with bulbar weakness manifesting with dysarthria[clevelandclinicmeded.com]


  • 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.medscape.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]
Staphylococcus Aureus
  • Box 1 Common Causes of Myopathy Acquired Myopathies Inflammatory Myopathy Polymyositis Dermatomyositis Inclusion body myositis Infection Viral infections (HIV, influenza virus, Epstein-Barr virus) Bacterial pyomyositis ( Staphylococcus aureus and streptococci[clevelandclinicmeded.com]
Nerve Biopsy showing Axonal Neuropathy
  • Nerve biopsy showed axonal neuropathy. Brain Magnetic Resonance Imaging (MRI) showed chronic vascular abnormalities in the white matter. Spinal MRI showed protrusion of disk C5-C6. Cervical Doppler analysis showed kinking of both carotid arteries.[omicsonline.org]


  • In general, treatment options for men and women are the same.[merckmanuals.com]
  • […] of screening and treatment for dyslipidemia.[uspreventiveservicestaskforce.org]
  • Activation of PPARs, by treatment with fibrates rescued the phenotype and reduced mortality rates in these mice. These findings may have a major impact for patients with NLSDM if these results can be translated to humans.[clinicaltrials.gov]
  • In Gaucher disease, the effect of treatment on pulmonary disease depends on the case series and the type of Gaucher disease.[err.ersjournals.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]


  • 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: Most patients can pursue normal daily activities and do not develop progressive problems. Precautions regarding diet and exercise are an important component of a successful outcome. BIBLIOGRAPHY Martin A, Haller RG, Barohn R.[rheumaknowledgy.com]
  • Despite this, the age at onset of respiratory symptoms seems critical for the definition of lung disease severity, and patients with symptoms and signs in the first decade of life generally have worse pulmonary prognosis [ 72 ].[err.ersjournals.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]


  • Rhabdomyolysis may also be seen with infectious etiologies, alcohol, and toxic exposures.[clevelandclinicmeded.com]
  • 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]
  • Hyperparathyroidism Adrenal (Addisons or Cushings) disease Infection HIV Toxoplasmosis Trichinosis Cysticercosis Drug-Induced Alcohol Statins, fibrates Hydroxychloroquine Cyclosporin A Amiodarone Others Metabolic myopathies Periodic paralysis Hypokalemia Etiology[rheumaknowledgy.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.medscape.com]


  • 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]
  • A genetic epidemiologic study of the carnitine transporter gene OCTN2 from Japan estimates the incidence of primary systemic carnitine deficiency as one in 40,000 births.[annalsofian.org]
  • 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]
  • 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


  • The pathophysiological principles of metabolic myopathies may be simplified into a logical biochemical cascade.[emedicine.medscape.com]
  • 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]


  • There is limited evidence about primary prevention of coronary heart disease using drugs in older populations; however, several secondary prevention trials that included individuals aged 65 and older showed a reduction in coronary heart disease events[uspreventiveservicestaskforce.org]
  • Rehabilitation specialists can help determine appropriate exercise and stretching regimens to prevent muscle loss and maximize activity.[kennedykrieger.org]
  • 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]
  • Treatment is indicated for all patients with ASCVD (secondary prevention) and for some without (primary prevention).[merckmanuals.com]
  • Statin therapy for primary prevention of cardiovascular disease. JAMA. 2013 ; 310:2451–2452.[jaha.ahajournals.org]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!