Diagnosis of Congenital SMA with arthrogryposis
Congenital SMA with arthrogryposis Diagnosis: Book Excerpts
Diagnostic Tests for Congenital SMA with arthrogryposis: Online Medical Books
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MUSCULAR ATROPHY:
Ask the Following Questions:
(Algorithmic Diagnosis of Symptoms and Signs)
- Is it focal or diffuse? Focal muscular atrophy would suggest poliomyelitis, early spinal muscular atrophy, peripheral vascular disease, and sympathetic dystrophy. However, occasionally it is an indication of an early spinal cord tumor, herniated disk, or peroneal muscular atrophy. It can also be a sign of an entrapment syndrome of one of the peripheral nerves. Focal muscular atrophy with hyperactive reflexes suggests amyotrophic lateral sclerosis, multiple sclerosis, spinal cord tumors, or syringomyelia.
- Are the reflexes hypoactive or hyperactive? Muscular atrophy with hypoactive reflexes suggests peripheral neuropathy, poliomyelitis, spinal muscular atrophy, myasthenia gravis, peripheral vascular disease, sympathetic dystrophy, herniated disk, early spinal cord tumor, and peroneal muscular atrophy. Muscular atrophy with hyperactive reflexes suggests multiple sclerosis, spinal cord tumors, syringomyelia, and amyotrophic lateral sclerosis.
- Are there associated sensory changes? The finding of muscular atrophy with sensory changes suggests a peripheral neuropathy, Guillain-Barré syndrome, Friedreich's ataxia, multiple sclerosis, transverse myelitis, a herniated disk, spinal cord tumor, and peroneal muscular atrophy. It may also suggest syringomyelia.
- Are the reflexes normal? The presence of normal reflexes suggests anorexia nervosa, tuberculosis, metastatic malignancy, and hyperthyroidism.
DIAGNOSTIC WORKUP
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.
» READ BOOK EXCERPT ONLINE »
Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
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.
» READ BOOK EXCERPT ONLINE »
Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
TESTICULAR ATROPHY:
Ask the Following Questions:
(Algorithmic Diagnosis of Symptoms and Signs)
- Is it unilateral? The presence of unilateral atrophy would suggest hernia surgery, previous orchitis from mumps, gonorrhea, syphilis, tuberculosis or elephantiasis, varicocele, hydrocele, and an undescended testicle.
- Is there a history of trauma or surgery? A history of surgery would suggest that the testicular atrophy is related to hernia surgery or surgery for undescended testicle, vasectomy, or prostatectomy. History of trauma may suggest that the patient had an acute orchitis or hemorrhage from trauma.
- Is there a history of an infection? A history of infection would suggest mumps, gonorrhea, syphilis, tuberculosis, or elephantiasis.
- Is there a loss of secondary sex characteristics? These findings would suggest Klinefelter's syndrome.
- Is there an enlarged liver? The presence of an enlarged liver or other signs of hepatic dysfunction would suggest cirrhosis or hemochromatosis.
- Are there abnormal neurologic findings? The presence of abnormal neurologic findings would suggest myotonia atrophica.
DIAGNOSTIC WORKUP
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.
» READ BOOK EXCERPT ONLINE »
Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
MUSCULAR ATROPHY:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
Focal atrophy of a muscle often means a damaged peripheral nerve or root. If there are visible fasciculations, a lesion of the spinal cord or root is most likely. Electromyography will determine which portion of the nerve is affected. It will also be helpful in diagnosing muscle disease. Muscle biopsy is valuable to rule out trichinosis, dermatomyositis, or muscular dystrophy. If there are fasciculations, a spine x-ray, spinal tap, and myelography or MRI may be necessary to establish the diagnosis. Sedimentation rate, CRP, RA titer, ANA, and tuberculin tests may be necessary.
» READ BOOK EXCERPT ONLINE »
Source: Differential Diagnosis in Primary Care, 2007
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
TESTICULAR ATROPHY:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
The workup of testicular atrophy may require a chromatin analysis, serum testosterone, FSH and LH levels, and biopsy, but referral to an endocrinologist is the best way to get this accomplished with accuracy.
» READ BOOK EXCERPT ONLINE »
Source: Differential Diagnosis in Primary Care, 2007
MUSCULAR ATROPHY:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
Focal atrophy of a muscle often means a damaged peripheral nerve or
root. If there are visible fasciculations, a lesion of the spinal cord or
root is most likely. Electromyography will determine which portion of the
nerve is affected. It will also be helpful in diagnosing muscle disease.
Muscle biopsy is valuable in ruling out trichinosis, dermatomyositis,
or muscular dystrophy. If there are
fasciculations, a spine x-ray, spinal tap, and myelography or MRI may be
necessary to establish the diagnosis. Sedimentation rate, CRP, RA titer,
ANA, and tuberculin tests may be necessary.
» READ BOOK EXCERPT ONLINE »
Source: Differential Diagnosis in Primary Care, 2007
TESTICULAR ATROPHY:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
The workup of testicular atrophy may require a chromatin analysis,
serum testosterone, follicle-stimulating hormone (FSH) and luteinizing
hormone (LH) levels, and biopsy, but referral to an endocrinologist is the
best way to get this accomplished with accuracy.
» READ BOOK EXCERPT ONLINE »
Source: Differential Diagnosis in Primary Care, 2007
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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