• weakness
  • Myotubular myopathy (MTM) is a severe congenital muscle disease characterized by profound weakness, early respiratory failure and premature lethality. (biologists.org)
  • Failure of transmission at many neuromuscular junctions results in weakness of muscle contraction. (mhmedical.com)
  • In the myasthenic patient, the decreased efficiency of neuromuscular transmission combined with the normal rundown results in the activation of fewer and fewer muscle fibers by successive nerve impulses and hence increasing weakness, or myasthenic fatigue . (mhmedical.com)
  • When neuromuscular disease affects the nerves in the peripheral nervous system, communication between the nervous system and muscles becomes impaired leading to to muscle weakness and wasting. (bellaonline.com)
  • The finding that an antibody to LRP4 is a cause of the most common disease affecting brain-muscle interaction helps explain why as many as 10 percent of patients have classic symptoms, like drooping eyelids and generalized muscle weakness, yet their blood provides no clue of the cause, said Dr. Lin Mei, Director of the Institute of Molecular Medicine and Genetics at the Medical College of Georgia at Georgia Regents University. (bio-medicine.org)
  • About 10 percent of patients have no evidence of two other antibodies already known to cause the disease, although they have classic clinical symptoms such as drooping eyelids, generalized muscle weakness and problems breathing, and electrical studies of their brain-muscle communication indicate a problem. (eurekalert.org)
  • In the advanced stages of the disease, weakness of the respiratory muscles may occur. (wikipedia.org)
  • The disease still appears to result in an autoimmune loss of acetylcholine receptor activity, but the phenotype of these patients appears to be different from those of many other myasthenic patients: more likely women, less eye involvement, more likely to have weakness of neck and oropharynx, and more likely to be African-American in ethnicity. (wikipedia.org)
  • AChR
  • Baseline lab tests to be done will include IgA level to evaluate for deficiency, IgG level, CBC, AchR antibody, pregnancy tests in women, LFT's, PT/PTT and BUN/Creatinine. (clinicaltrials.gov)
  • membrane
  • At the nerve ending in the neuromuscular junction, where the impulse is transferred to the muscle cell, the nerve impulse leads to the opening of voltage-gated calcium channels (VGCC), the influx of calcium ions into the nerve terminal, and the calcium-dependent triggering of synaptic vesicle fusion with plasma membrane. (wikipedia.org)
  • Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). (wikipedia.org)
  • muscles
  • MG may also involve other muscle groups (generalized MG). Although these blocking antibodies may be confined to one of the larger muscles responsible for moving the face or appendages or for breathing, about 90% of MG patients eventually have eye involvement. (wikipedia.org)
  • Immunologic hypotheses proposes that there may be differences in the antibodies in ocular MG versus generalized MG that may favor the muscles responsible for eye movement and eyelid elevation. (wikipedia.org)
  • Neuromuscular disease may have an effect through directly affecting the muscles, the junction between nerves and muscles, the peripheral nerves in the extremities, or the motor and sensory nerves coming from the spinal cord. (bellaonline.com)
  • While the various neuromuscular diseases differ in their cause and symptoms, each in some way affects the muscles and the nerves of the peripheral nervous system. (bellaonline.com)
  • It occurs when normal communication between the nerve and muscle is interrupted at the neuromuscular junction - the place where nerve cells connect with the muscles they control. (kids.net.au)
  • Neuromuscular disease is a very broad term that encompasses many diseases and ailments that impair the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions. (wikipedia.org)
  • Neuromuscular disease can also be diagnosed by testing the levels of various chemicals and antigens in the blood, and using electrodiagnostic medicine tests including electromyography (measuring electrical activity in muscles) and nerve conduction studies. (wikipedia.org)
  • Strabismus is caused by imbalances in the actions of muscles that rotate the eyes, and can sometimes be relieved by weakening a muscle that pulls too strongly, or pulls against one that has been weakened by disease or trauma. (wikipedia.org)
  • congenital
  • This category divides neuromuscular diseases into three broad categories: immune-mediated disease, toxic/metabolic and congenital syndromes. (wikipedia.org)
  • Within RD-Connect's sister project Neuromics, Hanns is disease coordinator for the congenital myasthenic syndromes, and in this and several other exome sequencing projects is responsible for gene discovery and work on disease modifying factors influencing severity of phenotype. (icnmd2018.org)
  • voltage-gated po
  • Some neuromyotonia cases do not only improve after plasma exchange but they may also have antibodies in their serum samples against voltage-gated potassium channels. (wikipedia.org)
  • diagnosis
  • The test is approximately 90% positive for generalized MG, 50% positive for ocular MG, and a negative result does not rule out the possible diagnosis of MG. [ 7 ] In juvenile myasthenia, it is more common for children to not have a positive test (presence of antibodies) for the acetylcholine. (chiro.org)
  • Along with the current prevalence, the report also contains a disease overview of the risk factors, disease diagnosis and prognosis along with specific variations by geography and ethnicity. (yahoo.com)
  • Neuromuscular Diseases: A Practical Approach to Diagnosis and Management. (wikipedia.org)
  • Diagnosis can be supported by blood tests for specific antibodies, the edrophonium test, or a nerve conduction study. (wikipedia.org)
  • However, because NMT mimics some symptoms of motor neuron disease (ALS) and other more severe diseases, which may be fatal, there can often be significant anxiety until a diagnosis is made. (wikipedia.org)
  • In order to get an accurate diagnosis see a trained neuromuscular specialist. (wikipedia.org)
  • serum
  • Treatment with a higher amount of anti-C1q antibody gives rise to increased serum anti-acetylcholine receptor antibody, immune complex and C3 levels, facilitates kidney C3 and IgG deposits and thus reduces the treatment efficacy. (springer.com)
  • The neurologist or specialist may run a series of more specialized tests, including needle electromyography EMG/ and nerve conduction studies (NCS) (these are the most important tests), chest CT (to rule out paraneoplastic) and specific blood work looking for voltage-gated potassium channel antibodies, acetylcholine receptor antibody, and serum immunofixation, TSH, ANA ESR, EEG etc. (wikipedia.org)
  • Mechanisms
  • Engel, A.G. and Fumagalli, G. (1982) Mechanisms of acetylcholine receptor loss from the neuromuscular junction. (springer.com)
  • The scope of this subject covers topics such as molecular neuroanatomy, mechanisms of molecular signaling in the nervous system, the effects of genetics and epigenetics on neuronal development, and the molecular basis for neuroplasticity and neurodegenerative diseases. (wikipedia.org)
  • cause
  • New cause found for muscle-weakening disease myasthe. (bio-medicine.org)
  • It is the most well understood autoimmune disease, and knowledge of its cause and treatment has broad relevance to many diseases of more common occurrence. (els.net)
  • This includes removing the two antibodies from patients then giving those to lab animals to see if both cause disease. (eurekalert.org)
  • She has demonstrated that transfer of these antibodies across the placenta from the pregnant woman to the fetus in utero can cause developmental abnormalities. (wikipedia.org)
  • therefore, it depends on the disease Other management routes for NMD should be based on medicinal and surgical procedures, again depending on the underlying cause. (wikipedia.org)
  • types E and F can cause disease in humans, while the other types cause disease in other animals. (wikipedia.org)
  • Humans
  • There are eight types of botulinum toxin, named type A-H. Type A and B are capable of causing disease in humans, and are also used commercially and medically. (wikipedia.org)
  • Rabies is a viral disease that causes inflammation of the brain in humans and other mammals. (wikipedia.org)