Diagnosis of Muscular Dystrophy
Diagnostic Test list for Muscular Dystrophy:
The list of medical tests
mentioned in various sources as
used in the diagnosis of Muscular Dystrophy
includes:
Muscular Dystrophy Diagnosis: Book Excerpts
Diagnosis of Muscular Dystrophy: medical news summaries:
The following medical news items
are relevant to diagnosis and misdiagnosis issues for Muscular Dystrophy:
Diagnostic Tests for Muscular Dystrophy: Online Medical Books
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Review excerpts from medical books online, free, without registration,
for more information about diagnostis of Muscular Dystrophy.
CRAMPS, MUSCULAR:
Ask the following questions:
(Algorithmic Diagnosis of Symptoms and Signs)
- Is there a history of drug ingestion? Many drugs produce muscular cramps. The most notable are the diuretics.
- Are there absent or diminished peripheral pulses? Absent or diminished peripheral pulses suggest the cramps are due to ischemia from peripheral arteriosclerosis or arterial embolism.
- Are the femoral pulses diminished? Diminished femoral pulses suggest a Leriche syndrome or saddle embolism of the terminal aorta.
- Is there hypertension? Hypertension suggests aldosteronism and chronic glomerulonephritis.
- Are the cramps limited to one extremity? Limitation of the cramps to one extremity suggests an occupational neurosis (professional cramps).
- Is there a positive Chvostek's and/or Trousseau's sign? These are signs of tetany, as might be associated with hypoparathyroidism, uremia, alkalosis, and other causes.
- Is there fever? Fever is associated with dehydration, heat stroke, and many infectious diseases that cause cramps.
DIAGNOSTIC WORKUP
All patients should have a CBC, sedimentation rate, chemistry panel, electrolytes, and urinalysis. If there is associated diminished or absent peripheral pulses, then Doppler studies and arteriography should be done. If the cramps are acute in onset, time should not be wasted in performing these studies. Magnetic resonance angiography is an excellent alternative to invasive angiography, but it is expensive. If there is associated hypertension, then 24-hr urine aldosterone and plasma renin studies should be done. If there are positive Trousseau's and/or Chvostek's signs, a thorough investigation for hypoparathyroidism should be done. A single serum calcium and phosphorus and alkaline phosphatase is not enough, but repeated studies should be done. In addition, 24-hr urine collection for calcium and serum parathyroid hormones should be done. An endocrinologist should probably be consulted if there is any doubt about the existence of hypoparathyroidism or any of the other causes of hypocalcemia.
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Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
MUSCULAR CRAMPS:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
Clinically, one should look for absent or diminished pulses in the extremity involved, Chvostek and Trousseau signs of tetany, and neurologic signs of an upper motor neuron lesion. An occupational history may disclose that the patient is a miner or iron-worker or is exposed to excessive heat on the job. Occupations such as painters, writers, seamstresses and compositors suggest the so-called professional cramps. Adson signs are positive in thoracic outlet syndrome. Cramps in the legs produced by walking a certain distance suggest peripheral arteriosclerosis and Leriche syndrome. The initial laboratory workup involves a CBC, urinalysis, chemistry panel, and electrolytes. If a vascular cause is suspected, ultrasonography and perhaps venography or angiography may be indicated
» READ BOOK EXCERPT ONLINE »
Source: Differential Diagnosis in Primary Care, 2007
Muscular dystrophy:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
Diagnosis depends on typical clinical findings, family history, and diagnostic test findings. If another family member has muscular dystrophy, its clinical characteristics can indicate the type of dystrophy the patient has and how he may be affected.
Electromyography typically demonstrates short, weak bursts of electrical activity or high-frequency, repetitive waxing and waning discharges in affected muscles. Muscle biopsy shows variations in the size of muscle fibers and, in later stages, shows fat and connective tissue deposits; dystrophin is absent in Duchenne’s dystrophy and diminished in Becker’s dystrophy. Serum creatine kinase is markedly elevated in Duchenne’s, but only moderately elevated in Becker’s and facioscapulohumeral dystrophies.
Immunologic and molecular biological assays available in specialized medical centers facilitate accurate prenatal and postnatal diagnosis of Duchenne’s and Becker’s muscular dystrophies and are replacing muscle biopsy and elevated serum creatine kinase levels in diagnosing these dystrophies. These assays can also help to identify carriers.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
MUSCULAR CRAMPS:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
Clinically, one should look for absent or diminished pulses in the
extremity involved, Chvostek and Trousseau signs of tetany, and neurologic
signs of an upper motor neuron lesion. An occupational history may disclose
that the patient is a miner or iron-worker or is exposed to excessive heat
on the job. Occupations such as painters, writers, seamstresses, and
compositors suggest the so-called professional cramps. Adson signs are
positive in thoracic outlet syndrome. Cramps in the legs produced by walking
a certain distance suggest peripheral arteriosclerosis and Leriche syndrome.
This is also a sign of spinal stenosis. The initial laboratory workup
involves a CBC, urinalysis, chemistry panel, and electrolytes. If a vascular
cause is suspected, ultrasonography and perhaps venography or angiography
may be indicated.
» READ BOOK EXCERPT ONLINE »
Source: Differential Diagnosis in Primary Care, 2007
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