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]

• Epilepsy

  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]

  Metabolic Myopathy Acid maltase or acid alpha-1,4-glucosidase deficiency (Pompe's disease) Glycogen storage disorders 3-11 Carnitine deficiency Fatty acid oxidation defects Carnitine palmitoyl transferase deficiency Mitochondrial Myopathy Myoclonic epilepsy [clevelandclinicmeded.com]

  myoclonic epilepsy and ragged red fibers or Kearns-Sayre syndrome). [the-rheumatologist.org]

  Shapira et al and Mart et al have each described pairs of sibs with a distinctive condition consisting of onset during the first decade of diminution of growth rate, episodes of vomiting, headache and acidosis, a myopathy and the later development of epilepsy [annalsofneurosciences.org]

• Dyspnea

  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]

• Hepatomegaly

  Manifestations in infantile-onset patients are hypotonia, hypoketotic hypoglycemic encephalopathy, hepatomegaly and cardiomyopathy. [annalsofian.org]

  Hepatomegaly, macroglossia, cardiomegaly and early respiratory muscle involvement are common in infantile and childhood varieties. Infantile form is fatal before 2 years of age. [annalsofneurosciences.org]

  CDS is due to mutations in α/β-hydrolase domain-containing protein 5 ( ABHD5 ) and is characterized by non-bullous congenital ichthyosiform erythroderma (NCIE), hepatomegaly, and liver steatosis. [omicsonline.org]

  Another rare disorder linked to CPT II deficiency is manifest in infancy as hypoketotic hypoglycemia, hepatomegaly and hepatic failure, cardiomegaly and arrhythmias, lethargy, seizure, and coma. [emedicine.medscape.com]

  Extraocular muscle weakness Peripheral neuropathy Migraine headaches Seizures Stroke Diabetes mellitus Cardiac arrhythmias Acid maltase deficiency or glycogen storage disorder type 2 Approximately 1 in 40,000 newborns Proximal girdle weakness Macroglossia, hepatomegaly [clevelandclinicmeded.com]

• 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]

• Heart Failure

  It may manifest before 2 years of age as Pompe’s disease with infantile weakness, hypotonia, heart failure, and early death. A second variety begins in early childhood with truncal, proximal, and respiratory muscle weakness. [rheumaknowledgy.com]

  Cardiomyopathy and congestive heart failure are common and may be the direct cause of death. Pathologically, the muscle shows marked increase in the number of lipid droplets, mainly in type I muscle fibers. [emedicine.medscape.com]

  failure Critical illness myopathy At least as prevalent as critical illness neuropathy Affects approximately 60% of patients with prolonged ICU stay Symmetrical proximal distal muscle weakness Critical illness neuropathy Failure to wean off ventilation [clevelandclinicmeded.com]

  The patients usually die before 12 months of age due to heart failure and respiratory weakness (12, 16 and 20). Childhood-onset form. [annalsofneurosciences.org]

• Muscular Atrophy

  Spinal muscular atrophy. Congenital hypomyelinating neuropathies. It may be difficult to distinguish myopathy from peripheral neuropathy. [patient.info]

  In addition, adult onset spinal muscular atrophy, including X-linked bulbospinal muscular atrophy, usually presents with proximal muscle weakness and mimics the typical pattern of a myopathy. [clinicalgate.com]

• Sleep Disturbance

  The disease is characterized by profound fatigue and disability lasting for at least 6 mo, episodes of cognitive dysfunction, sleep disturbance, autonomic abnormalities, chronic or intermittent pain syndromes, microbiome abnormalities ( 1 ), cerebral [pnas.org]

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]

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]

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]