Erb-Goldflam disease


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myasthenia

 [mi″as-the´ne-ah]
muscular debility or weakness. adj., adj myasthen´ic.
myasthenia gas´trica weakness and loss of tone in the muscular coats of the stomach; atony of the stomach.
myasthenia gra´vis an autoimmune disease manifested as fatigue and exhaustion of the muscles, aggravated by activity and relieved by rest; the weakness ranges from mild to life-threatening. There is no muscular atrophy or loss of sensation. It characteristically affects the ocular and other cranial muscles and tends to fluctuate in severity. The muscular weakness is believed to be caused by the presence of circulating antibodies directed against the postsynaptic acetylcholine receptors at the neuromuscular junction; it is not clear what initiates formation of the antibodies. There also is evidence of altered cellular immunity.

Symptoms of myasthenia gravis include ptosis, diplopia, and difficulty in chewing and swallowing. Weakness of the upper and lower limbs usually is first noted when the patient tries to walk upstairs, gets up from a sitting position, raises arms over the head, or lifts a heavy object. Ventilatory deficiency due to weakness of the respiratory muscles occurs in those with a severe form of the disease. About 20 per cent of all affected patients have only ocular myasthenia; the others have some form of generalized weakness. The presence of acetylcholine receptor antibodies is elevated in patients with myasthenia gravis. Diagnosis is established when there is a favorable response to cholinergic drugs, which are inhibitors of acetylcholinesterase (an enzyme that breaks down acetylcholine); their action permits acetylcholine levels to become high enough to stimulate the postsynaptic receptors.

Children born of mothers with the disease exhibit a transient weakness that is evident at birth or may appear in the first day or so, with feeding difficulties manifested by poor sucking and swallowing abilities. They rarely have bulbar involvement, and usually recover in a week or so after birth. This condition is called neonatal myasthenia, and is related to circulating antibodies acquired from the mother while the fetus was in utero. Congenital myasthenia is also present at birth, but it may not be evident until after the first year of life. The child produces antibodies against acetylcholine receptor sites and experiences symptoms similar to those presented by myasthenia gravis patients of all ages.

The patient is started on anticholinesterase drugs, such as neostigmine or pyridostigmine, as soon as the diagnosis is confirmed. The steroid prednisone and other immunosuppressive drugs provide some relief of symptoms and longer periods of remission. thymectomy is an alternative treatment for those patients whose weakness and debility do not respond adequately to cholinergic drug therapy. plasma exchange to remove the circulating autoantibodies provides some clinical improvement. High-dose intravenous immune globulin may also be used to temporarily improve immune function.

Myasthenic crisis can develop suddenly after a systemic infection, surgery, or some other stressful event. The crisis usually is transient, but during the critical phase assisted ventilation and intensive care are needed to assure survival of the patient with respiratory failure.
Schematic drawing of the normal neuromuscular junction (A) and its simplification in myasthenia gravis (B). The antibodies bind to the acetylcholine (Ach) receptor preventing binding of the neurotransmitter (Ach). From Damjanov, 2000.
neonatal myasthenia transient myasthenia gravis (lasting a week to a month) in infants born to myasthenic women.

Erb,

Wilhelm Heinrich, German neurologist, 1840-1921.
Duchenne-Erb paralysis - Synonym(s): Erb palsy
Duchenne-Erb syndrome - Synonym(s): Erb palsy
Erb atrophy - a form of progressive muscular atrophy in which the disease begins in the muscle and not in the spinal centers. Synonym(s): progressive muscular dystrophy
Erb disease - progressive weakness and atrophy of the muscles of the tongue, lips, palate, pharynx, and larynx, most often caused by motor neuron disease. Synonym(s): progressive bulbar paralysis
Erb formula - the portion of the brachial plexus that can be stimulated through intact skin.
Erb palsy - a type of brachial birth palsy in which there is paralysis of the muscles of the upper arm and shoulder girdle. Synonym(s): Duchenne-Erb paralysis; Duchenne-Erb syndrome; Erb-Duchenne paralysis; Erb paralysis
Erb paralysis - Synonym(s): Erb palsy
Erb sign - Synonym(s): Erb-Westphal sign
Erb spinal paralysis - chronic myelitis of syphilitic origin.
Erb-Charcot disease - a type of cerebral palsy. Synonym(s): spastic diplegia; spastic paraplegia
Erb-Duchenne paralysis - Synonym(s): Erb palsy
Erb-Goldflam disease - Synonym(s): Goldflam disease
Erb-Westphal sign - abolition of the patellar tendon reflex in certain diseases of the spinal cord and occasionally in brain disease. Synonym(s): Erb sign; Westphal-Erb sign; Westphal phenomenon; Westphal sign
Nievergelt-Erb syndrome - Synonym(s): Nievergelt syndrome
Westphal-Erb sign - Synonym(s): Erb-Westphal sign

Goldflam,

Samuel V., Polish neurologist, 1852-1932.
Erb-Goldflam disease - Synonym(s): Goldflam disease
Goldflam disease - disorder of neuromuscular transmission, marked by fluctuating weakness, of oculofacial and proximal limb muscles. Synonym(s): Erb-Goldflam disease; Goldflam symptom complex; Hoppe-Goldflam disease; myasthenia gravis
Goldflam symptom complex - Synonym(s): Goldflam disease
Hoppe-Goldflam disease - Synonym(s): Goldflam disease

Erb-Goldflam disease

myasthenia gravis.