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Neuromuscular Junction Disorder

Neuromuscular Disease


  • […] 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]
  • 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]
  • 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]
  • 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]
  • Critical illness myopathy Acute Rhabdomyolisis Acid maltase deficency Periodic paralysis Acute myelopathy (Spinal shock phase)  Space-occupying lesions or Acute transverse myelitis 3.[slideshare.net]
  • ACQUIRED METABOLIC/ENDOCRINE 2.1 Hyperthyroidism may present with a proximal myopathy. CK is normal. Hypothyroidism may present with myalgia, cramps, stiffness and proximal myopathy Cushing's Syndrome and steroid induced myopathy.[academic.sun.ac.za]
Muscle Hypotonia
  • Manifestations include muscle weakness; fasciculation; muscle atrophy; spasm; myokymia; muscle hypertonia, myalgias, and muscle hypotonia.[icd10data.com]
Flaccid Paralysis
  • 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]
  • 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]


  • 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]


  • 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]


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


  • 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]
  • Possible etiologies include pregnancy, a compressing mass, aneurysm, trauma, tight clothing, obesity or diabetes.[hqmeded.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]
  • The treatment entails preventing other complications such as aspiration, and addressing the etiology more specifically.[nature.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]


  • 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]
Sex distribution
Age distribution


  • 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]
  • It breaks down every one disorder by means of pathophysiology, medical presentation and normal background and direction for more suitable prognosis and remedy.[illustratedfirstworldwar.com]


  • 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 physicians prefer to start with lower dosages of prednisone (i.e., 20 to 40 mg/day) and gradually increase the dosage to prevent an occasionally noted transient worsening.[what-when-how.com]

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