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Neuromuscular Junction Disorder
Neuromuscular Disease

Presentation

Clinical presentation of ALS Initial presentation of ALS is asymmetric extremity weakness that affects the upper or lower limbs. Foot drop or lateral hand weakness and atrophy are the initial common presentations. [lecturio.com]

[…] disorders, sleep disorders, and others Major categories of systemic illness are explored for each presentation to guide you towards a likely cause. [books.google.com]

Pain is often a prominent feature and dysphagia is also sometimes present. [academic.sun.ac.za]

This does not imply that there are no antibodies present, but this terminology only became present because scientists were testing for the wrong antigen. [en.wikipedia.org]

Patients may also present with dysarthria, dysphagia, and less commonly with difficulty walking up stairs. Motor. The patient presents with weakness or fatigability that fluctuates throughout the day. [ahcmedia.com]

Entire Body System

  • Pain

    Includes reviews of public policy towards neurologic conditions, such as the persistent vegetative state and use of narcotics for chronic pain, important practice issues you may face. [books.google.de]

  • Severe Pain

    Includes cutting-edge content on PRIALT for intrathecal drug delivery (ITDD) for severe pain and additional updates on additional pain management using the ITDD system. [books.google.de]

    The typical presentation includes unilateral facial palsy, severe pain and a vesicular rash on the face or ear. Ramsey-Hunt Syndrome. [hqmeded.com]

    The condition is heralded by severe pain in the hip or shoulder with prominent weakness of the ilipsosas, thigh adductors, and quadriceps muscles; when the lumbosacral plexus is affected. [dartmouth.edu]

  • Difficulty Walking

    […] activities such as prolonged walking. [ahcmedia.com]

    Such patients may have difficulty walking in the dark or on irregular surfaces because of proprioceptive problems with the feet. Polyneuropathy may also result in distal weakness and atrophy if there is actual loss of motor axons. [dartmouth.edu]

Gastrointestinal

  • Failure to Thrive

    The course often is insidious and mistaken for failure to thrive. TREATMENT The most important aspect of treatment is supportive, with mechanical ventilation when necessary. [medtextfree.wordpress.com]

Eyes

  • Blurred Vision

    Autonomic dysfunction (blurred vision, diplopia, bradycardia, and hypotension) followed by descending flaccid paralysis occur Wound botulism Results from contamination of surgical or other wounds. [academic.oup.com]

    They include: botulism — a rare condition caused by toxins (harmful chemicals) produced by the bacteria Clostridium botulinum, causing weakness, blurred vision, feeling tired and trouble speaking Charcot-Marie-Tooth disease — a group of related conditions [nemours.org]

    Ocular symptoms of muscular weakness (ptosis, double vision, blurred vision) are often the first manifestations; eventual ocular involvement occurs in 85% of patients. [hqmeded.com]

    Syrntoms are proximal weakness, often with autonomic features (blurred vision and dry mouth); reflexes are absent. 3. [academic.sun.ac.za]

    Internal ophthalmoplegia with accommodation paresis produces blurred vision. The pupils often are abnormal, with a poor reaction to light. [medtextfree.wordpress.com]

Musculoskeletal

  • Myopathy

    In rare myopathies (with involvement of the levator muscle of upper eyelid), ptosis is usually an isolated ocular sign, and bilateral in congenital myopathies, glycogen storage disease type II (also called Pompe disease or acid maltase deficiency). [atlasofscience.org]

    Myoadenylate deaminase deficiency Phosphorylase deficiency Phosphofructokinase deficiency Phosphoglycerate kinase deficiency Less common myopathies: Central core disease Hyperthyroid myopathy Myotonia congenita Myotubular myopathy Nemaline myopathy Paramyotonia [hopkinsmedicine.org]

    Conditions and symptoms Amyotrophic lateral sclerosis (ALS) Botulism Congenital myasthenic syndromes Congenital myopathies Cramp-fasciculation syndrome Elevated creatine kinase Fasciculations Inclusion-body myositis Lambert-Eaton syndrome Mitochondrial [mayoclinic.org]

    — a group of disorders involving muscle weakness (includes central core disease, myotubular myopathy, nemaline and other kinds of myopathy) Friedreich’s ataxia and other kinds of ataxia — trouble controlling muscle movements inflammatory myopathies — [nemours.org]

    Critical care myopathies (S.J. Bird). 30. Muscle weakness in critical illness (C.F. Bolton). 31. Metabolic myopathies (C.L. Gooch, S. DiMauro). 32. Toxic myopathies (D.I. Rubin). Section IV. Future Directions. 33. [elsevier.com]

  • Muscle Hypotonia

    Manifestations include muscle weakness; fasciculation; muscle atrophy; spasm; myokymia; muscle hypertonia, myalgias, and muscle hypotonia. [icd10data.com]

Psychiatrical

  • Withdrawn

    Drug induced myasthenia This may be associated with penicillamine therapy; it usually resolves when the drug is withdrawn. [academic.oup.com]

Neurologic

  • Peripheral Neuropathy

    Myasthenia gravis is not a peripheral neuropathy. [ahcmedia.com]

    Part two then addresses the complete range of specific neuromuscular diseases: neuronopathies, peripheral neuropathies, neuromuscular junction disorders, muscle ion channel disorders, myopathies, and miscellaneous neuromuscular disorders and syndromes [books.google.com]

    neuropathy Polymyositis Research Doctors are active in clinical and laboratory research to improve the diagnosis and treatment of people with neuromuscular diseases. [mayoclinic.org]

    Neuropathy The peripheral nervous system takes information from the brain and spinal cord to the rest of the body. [seton.net]

    neuropathy; and antipsychotic agents for dementia and epilepsy Improved art program that better highlights clinicalclues. [books.google.de]

  • Polyneuropathy

    "Distal Symmertic Polyneuropathy: A Review" JAMA 2015;314(20):2172-2181 Grogan PM. "Toxic Neuropathies" Neurol Clin 2005;23:377-396 Pasnoor M et al. [loyolamedicine.org]

    What are the causes of polyneuropathy? Answer 21-5. [dartmouth.edu]

    Other muscle disorders Neuromuscular junction disorders Myasthenia gravis Lambert Eaton syndrome Congenital myasthenia Peripheral nerve disorders Charcot Marie Tooth disease Chronic inflammatory demyelinating polyneuropathy (CIDP) Guillain Barré syndrome [uhs.nhs.uk]

    […] tired and trouble speaking Charcot-Marie-Tooth disease — a group of related conditions that cause muscle weakness, shrinking muscles, and a reduced sense of touch in the lower legs and feet, and lower arms and hands chronic inflammatory demyelinating polyneuropathy [nemours.org]

    Acute inflammatory demyelinating polyneuropathy is treated by the best medical care, supplemented by the use of intravenous gamma globulin or plasmapheresis. [nature.com]

  • Guillain-Barré Syndrome

    Guillain-Barré syndrome. Am Fam Physician 2004;69:2405-2410. 2. Ropper AH. The Guillain-Barré syndrome. N Engl J Med 1992;326:1130-1136. 3. Tsang RS. The relationship of Campylobacter jejuni infection and the development of Guillain-Barré syndrome. [ahcmedia.com]

    The disease has no cure and al avenues for treatment involve improvement of the quality of life Guillain-Barré Syndrome (GBS) Definition Image : “Campylobacter jejuni, which triggers about 30% of cases of Guillain-Barré syndrome”. [lecturio.com]

    Other muscle disorders Neuromuscular junction disorders Myasthenia gravis Lambert Eaton syndrome Congenital myasthenia Peripheral nerve disorders Charcot Marie Tooth disease Chronic inflammatory demyelinating polyneuropathy (CIDP) Guillain Barré syndrome [uhs.nhs.uk]

    Nerve destruction in Guillain-Barré syndrome. Click to see animation. [hqmeded.com]

    These disorders also cause Guillain-Barré syndrome, a rare condition where the immune system damages the nerves and ultimately causes paralysis. Neuromuscular junction disorders such as juvenile myasthenia gravis and botulism. [marybridge.org]

  • Flaccid Paralysis

    Seite 204 - AK (1993) Acute motor axonal neuropathy: A frequent cause of acute flaccid paralysis in China. Ann Neurol 33:333-342. ‎ Seite 244 - A controlled trial of riluzole in amyotrophic lateral sclerosis: ALS/Riluzole Study Group. [books.google.de]

    Autonomic dysfunction (blurred vision, diplopia, bradycardia, and hypotension) followed by descending flaccid paralysis occur Wound botulism Results from contamination of surgical or other wounds. [academic.oup.com]

    Differential diagnosis of flaccid paralysis Anterior horn disease Disorders of the NMJ  Polyemyelitis  Amyotrophic lateral sclerosis  Myasthenia gravis  Lambert-Eaton disease (Myasthenic syndrome)  Botulism  Snake, scorpion, spider bites Peripheral [slideshare.net]

  • Irritability

    This is damage of a nerve due to focal pressure or irritation (such as carpal tunnel syndrome). 21-4. What are symptoms of polyneuropathy? Answer 21-4. [dartmouth.edu]

    Source: Wikipedia Young patients may present with listlessness or irritability. Eventually as the disease progresses to involvement of bulbar nerves and the diaphragm, the patient can experience respiratory failure. [hqmeded.com]

    […] widow spider (Latrodectus mactans) bite a-Larotoxin Presynaptic Increased ACh release Autonomic hyperactivity Vasoconstriction Painful, rigid abdomen Calcium, magnesium, atropine, antivenin; warming Tick paralysis Toxic Presynaptic Impaired ACh release Irritability [medtextfree.wordpress.com]

Workup

A search for SCLC, especially in men older than 40 years, is an essential part of the patient workup. Antibodies to the P-type or Q-type VGCC are also found in patients with paraneoplastic cerebellar degeneration in both the serum and the CSF. [what-when-how.com]

After complete workup, its frequency fell to 14%. [nature.com]

Treatment

The disorders should be further subclassified in all patients before deciding the exact treatment. Treatment for these autoimmune disorders consists of a combination of symptomatic and immunosuppressive drug treatment, and supportive therapy. [oxfordmedicine.com]

Fortunately, a wide range of symptomatic treatments, immunosuppressive drugs, or other immunomodulating therapies is available. [ncbi.nlm.nih.gov]

Hopefully over the next few years we will be able to move from anecdotal to evidence based treatment for this condition. Figure 2 shows a treatment algorithm for MG. Figure 2 Treatment algorithm for myasthenia gravis (MG). [jnnp.bmj.com]

Treatment There is no known cure and treatment is focused on rehabilitation and slowing of muscle weakness. [lecturio.com]

Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders. [books.google.com]

Prognosis

With long-term treatment and specialized follow-up, the prognosis regarding muscle weakness is usually very good. Access to the complete content on Oxford Medicine Online requires a subscription or purchase. [oxfordmedicine.com]

Meriggioli This source covers all features of the prognosis and medical administration of sufferers with ailments of the neuromuscular junction. [illustratedfirstworldwar.com]

Very rarely can affect woman, who have much milder symptoms and a better prognosis. Distal 40 to 60 years Symptoms include weakness and wasting of muscles of the hands, forearms, and lower legs; progression is slow; rarely leads to total incapacity. [hopkinsmedicine.org]

Each type has its own set of symptoms and prognosis. Carpal Tunnel Syndrome, ulnar neuropathies, and other focal nerve injuries and entrapments. [seton.net]

The long-term prognosis is poorer when a thymoma is present.[22] When death occurs from myasthenia gravis, usually it is because of respiratory failure with secondary cardiac dysfunction. [medtextfree.wordpress.com]

Etiology

Possible etiologies include pregnancy, a compressing mass, aneurysm, trauma, tight clothing, obesity or diabetes. [hqmeded.com]

Infantile botulism is thought to be an occasional etiology for Sudden Infant Death Syndrome (SIDS). 29 Clinical Management. All suspected cases of botulism should be admitted to the ICU for observation and supportive care. [ahcmedia.com]

The treatment entails preventing other complications such as aspiration, and addressing the etiology more specifically. [nature.com]

Etiology Results from genetic mutation in the androgen receptor gene that is inherited in an x-linked recessive manner. Presentation This group of genetic disorders presents with muscle weakness and atrophy. [lecturio.com]

However, most of these conditions present in a rather stereotyped manner, and clarification of the precise etiology may require very elaborate procedures. [dartmouth.edu]

Epidemiology

The book also provides updated epidemiologic and statistical data throughout and includes a section on biostatistics in physical medicine and rehabilitation. [books.google.com]

Epidemiology The disease is usually sporadic but is less commonly genetically inherited. It is the most common disorder of the motor neuron system. [lecturio.com]

Lambert-Eaton myasthenic syndrome Epidemiology  10 fold less common than myasthenia gravis   60% of cases associated with small cell lung CA Syndrome may precede radiologic diagnosis of tumor by several years 17. Lambert-Eaton Sx. [slideshare.net]

Epidemiology Although there is no accurate epidemiological data for LEMS, it is probably more than 10-fold less common than MG. [jnnp.bmj.com]

Pathophysiology

Lambert- Eaton ---> uncommon pathophysiology of myasthenia gravis autoantibodies to postsynaptic Ach receptor pathophysiology of Lambert - Eaton myasthenic syndrome autoantibodies to postsynaptic Ach receptor Pathophysiology of Lambert-Eaton myasthenic [brainscape.com]

Includes separate chapters focusing on individual neurologic disorders with detailed descriptions from pathophysiology to in-depth analysis. [books.google.de]

MYASTHENIA GRAVIS Pathophysiology In anti-AChR antibody positive MG, autoantibodies target the acetylcholine (ACh) receptor (AChR) resulting in receptor blockade, down regulation, and complement mediated destruction, thus reducing the number of receptors [jnnp.bmj.com]

Underlying pathophysiology is related to a disorder of cell mediated immunity. Symptoms are prominent weakness of neck flexion and extension and of the shoulder and hip girdle. [academic.sun.ac.za]

Prevention

Some of these substances prevent the normal breakdown of acetylcholine after the nerve impulse has been transmitted to the muscle. Some neuromuscular junction disorders decrease the nerve's activity, causing weakness. [merckmanuals.com]

Builds a knowledge base of required skills for the necessary close observation and monitoring of the neuroscience patient to prevent complications and achieve the best outcomes. [books.google.de]

The toxin is taken up presynaptically in the cholinergic nerve endings by endocytosis and prevents the fusion of the synaptic vesicles with the nerve terminus. [ahcmedia.com]

Treatment The major concern is that inflammation in the muscle is followed by fibrosis and permanent muscle damage: an intensive effort must be made to prevent this happening. [academic.sun.ac.za]

Some of these things work by preventing the breakdown of acetylcholine after the transmission of the nerve impulse. [newhealthadvisor.com]

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2.1
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