| Disease Name | sporadic | | NMD Category | Disease of the Neuromuscular Junction | | Clinical Onset | any age | | Clinical Findings | GBS is an ascending polyneuritis that typically begins with numbness, tingling, and burning sensations in the feet, followed by weakness and flaccid paralysis of the legs. Weakness generally ascends to the torso, upper limbs, and face. Deep tendon reflexes such as the ankle jerk may be lost. Paralysis may be accompanied by fever, bulbar palsy, and an increase in cerebrospinal fluid protein levels.
Specific symptoms are bilateral and reflect the portion of the nervous system involved. Back pain is a major symptom in about one third of patients. Cranial nerves are affected in over 50% of cases, the facial nerves being most commonly involved. Paralysis of extraocular muscles, causing ptosis and double vision, occurs in about 10% of cases. Weakness in the limbs may be in a proximal as well as a distal distribution. Although sensory loss is usually not profound, there may be impairment of sensation in a glove and stocking distribution. The patient may have difficulty breathing or swallowing food. Signs of involvement of the autonomic nervous system include sinus tachycardia or bradycardia, hypertension, and changes in body temperature, vision, bladder function, and blood chemistries.
Fischer syndrome is a rare form of GBS affecting men primarily, and commonly follows an upper respiratory tract infection. A generalized weakness occurs that is particularly severe in the eye muscles. Impaired speech results from weakness in the facial and neck musculature. An awkward, unsteady gait is a common sign.
| | Diagnostic Work-up | In many cases the patient's history, symptoms, and physical exam are sufficient to make the diagnosis. Serum or whole blood preferred for detection of anti-heparan sulfate antibodies. A history of preceding infection, numbness and tingling, progression of weakness, back pain, and the findings of facial or limb weakness, and depressed or absent reflexes all point to GBS. The acute onset of bilateral facial palsy should immediately raise the suspicion of GBS.
Differential Diagnosis: Symptoms of peripheral neuropathy are often confused with the early symptoms of GBS. Also rule out spinal cord compression, spinal cord lesions, myasthenia gravis, poliomyelitis, acquired hypokalaemia, periodic paralysis, polymyositis, and botulism.
| | Treatment Notes | GBS can lead to life-threatening respiratory distress. Many patients require hospitalized intensive care during the early course of their illness, especially if ventilatory support is required. Treatment is available in the form of plasmapheresis (plasma exchange, a blood "cleansing" procedure) and intravenous immunoglobulin that can help speed recovery, reduce disability, and prevent complications in severe cases. Plasmapheresis may be most effective in younger patients with severe locomotor disability at the time of the first plasma exchange. Corticosteroids may be prescribed for chronic GBS. Physical therapy is helpful to restore muscle strength as the nerve supplies return.
Progression: The clinical course is highly variable. Paralysis generally peaks in less than 10 days, but may progress for months. Recovery begins after symptoms have stabilized and may take six months to two years. About 70 to 80% of patients make a good recovery with little or no residual neurologic signs. Others have varying degrees of distal muscle wasting and weakness. GBS is fatal in 2 to 5% of cases.
| | Protein ID | 21 | | Gene Location | | | Abstract | Disease subtypes: Miller-Fischer syndrome.
Guillain-Barré (ghee-yan bah-ray) syndrome is not a hereditary disease. It is included in this database because it may present with symptoms that are similar to some of the hereditary motor sensory neuropathies, and the description given here may be useful in differential diagnosis.
GBS can develop in any person at any age, regardless of gender or ethnic background. It is an inflammatory disorder of the peripheral nerves (those outside the brain and spinal cord). The central nervous system is unaffected. The cause is not known, but an autoimmune attack (caused by the body's own immune system) on healthy myelin in peripheral and cranial nerves, triggered by a viral or bacterial infection, is suspected in at least 50% of cases. Cases have also occurred following surgery, an insect sting, flu injection, or porphyria. Damage to the myelin sheath of nerve cells and nerve axons results in delayed nerve signal transmission. There is a corresponding weakness in the muscles that are supplied with nerve impulses by the affected nerves. Muscle weakness typically starts in the lower extremities and ascends to the upper extremities. | | Synonyms |
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