The Lambert-Eaton
myasthenic syndrome 1988-2008: a clinical picture in 97 patients.
Diagnosis and treatment of Lambert-Eaton
myasthenic syndrome. Neurol Clin 1994;12:387-99.
BioMarin has produced a medicine similar to the one the two boys - who suffer from Congenital
Myasthenic Syndrome - have taken for up to 10 years.
Kerry Webster, whose sons James and Adam have the rare muscle disease congenital
myasthenic syndrome, have been taking the drug 3,4DAP for the past 10 years.
The exception to this is the slow-channel congenital
myasthenic syndrome (SCS) because it increases the synaptic response to acetylcholine neurotransmitter.
It is important to distinguish myasthenia gravis, present in this patient, from
myasthenic syndrome (Eaton-Lambert syndrome, LEMS).
Their child was born with congenital
myasthenic syndrome, a rare condition making his muscles too weak for him to breathe unaided.
The child, who cannot be identified, was born with congenital
myasthenic syndrome (CMS), a rare neuromuscular condition.
Contributions cover acute neuropathies, chronic inflammatory demyelinating neuropathy and its variants, nonsystemic vasculitic neuropathy, dysimmune neuropathy, autoimmune autonomic ganglionopathy, myasthenia gravis with anti-acetylcholine receptor antibodies, muscle-specific receptor tyrosine kinase antibody-positive and seronegative myasthenia gravis, Lambert-Eaton
myasthenic syndrome, idiopathic inflammatory myopathies, and stiff person syndrome.
The patient in whom this mutation was traced is a 20-year-old woman diagnosed with congenital
myasthenic syndrome. Myasthenia gravis, which literally means grave muscle weakness, affects about 37,000 Americans.
Diseases of the Neuromuscular Junctions Conditions such as myasthenia gravis and congenital
myasthenic syndrome (which is detectable at birth) cause problems with eye movement, facial expression, chewing, swallowing, respiration and, occasionally, arm and leg movement.
Some of the disorders affect skeletal muscle or the neuromuscular junction, such as hypokalemic periodic paralysis (HypoKPP) and LambertEaton
myasthenic syndrome (LEMS).