Diagnostic Tests for Congenital SMA with arthrogryposis
Congenital SMA with arthrogryposis Tests: Book Excerpts
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Congenital SMA with arthrogryposis Diagnosis: Book Excerpts
Diagnostic Tests for Congenital SMA with arthrogryposis: Online Medical Books
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MUSCULAR ATROPHY:
DIAGNOSTIC WORKUP
(Algorithmic Diagnosis of Symptoms and Signs)
The basic workup includes a CBC, sedimentation rate, urinalysis, chemistry panel, ANA titer, serum protein electrophoresis, and VDRL test. Additional muscle enzymes may be ordered such as serum aldolase and CPK. A 24-hr urine collection for creatinine and creatine may be done.
At this point, it is best to consult a neurologist. He will probably order nerve conduction velocity studies and EMGs of the involved extremities. He also will be best qualified to determine the need for CT scans or MRIs of the brain or spine, as well as the particular study to order in each individual case. At times, spinal fluid analysis and muscle biopsies may be necessary to solve the problem. Also, a Tensilon test or acetylcholine receptor antibody titer may be ordered in suspected myasthenia gravis.
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Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
CRAMPS, MUSCULAR:
DIAGNOSTIC WORKUP
(Algorithmic Diagnosis of Symptoms and Signs)
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
TESTICULAR ATROPHY:
DIAGNOSTIC WORKUP
(Algorithmic Diagnosis of Symptoms and Signs)
Unilateral testicular atrophy usually requires no workup as long as there are no complaints of sexual infertility or impotence. A smear and culture of any urethral discharge should be done. Sometimes, prostatic massage may be necessary to obtain a good specimen.
The workup of bilateral testicular atrophy may include a serum testosterone, FSH, urine gonadotrophins, and chromosome studies to rule out Klinefelter's syndrome; liver function tests and liver biopsy to rule out cirrhosis and hemochromatosis; and EMG and muscle biopsies to rule out myotonia atrophica. A testicular biopsy may be necessary ultimately. A urologist will be consulted long before most of these tests would be performed.
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Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
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