Presentation
The overall clinical presentation was consistent with motor neurone disease. Cerebrospinal fluid analysis revealed mild pleocytosis and increased protein concentration. [ncbi.nlm.nih.gov]
Entire Body System
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Pallor
(L–O) Myelin pallor in the corticospinal tracts (CST) of the lateral column of the spinal cord: stage ( ), myelin pallor was not detected (L); stage ( ), myelin pallor was slightly notable (M); stage ( ), myelin pallor was moderate (N) and stage ( ), [bmjopen.bmj.com]
Eyes
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Vertical Gaze Palsy
Abstract A 36 year old man with a history of testicular germ cell tumour presented six months after bilateral orchidectomy with progressive amnesia, irritability, vertical gaze palsy, and generalised seizures. [ncbi.nlm.nih.gov]
Musculoskeletal
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Muscular Atrophy
The condition has been called progressive muscular atrophy (PMA), spinal muscular atrophy (SMA), Aran–Duchenne disease, Duchenne–Aran disease, Aran–Duchenne muscular atrophy, and Duchenne–Aran muscular atrophy. [en.wikipedia.org]
[…] tracts Applies To Duchenne-Aran muscular atrophy Progressive muscular atrophy (pure) ICD-9-CM Volume 2 Index entries containing back-references to 335.21 : [icd9data.com]
In particular, there was no serological evidence to suggest an association between persistent infection with any poliovirus type and amyotrophic lateral sclerosis or late-onset postpoliomyelitis progressive muscular atrophy. [ncbi.nlm.nih.gov]
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Muscle Twitch
Cramps usually precede the loss of strength and the muscle twitches also manifest early on in the disease. [mndcentre.org.uk]
Medications may be prescribed to control involuntary muscle twitching, muscle cramps and excess saliva. However, treatment essentially focuses on retaining function and quality of life, and providing comfort. [southerncross.co.nz]
Muscles twitch (called fasciculations). Muscle tone typically increases, and muscles tend to become stiff and tight, leading to muscle spasms (called spasticity). Movements are stiff and clumsy. [merckmanuals.com]
A single motor neuron may innervate many muscle fibres and a fibre can undergo many action potentials in the time taken for a single muscle twitch. [wikivisually.com]
Neurologic
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Polyradiculoneuropathy
Van den Bergh PYK, Pieret F (2004) Electrodiagnostic criteria for acute and chronic inflammatory demyelinating polyradiculoneuropathy. Muscle Nerve 29:565–574 PubMed CrossRef Google Scholar 40. [doi.org]
Workup
Other Pathologies
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Gliosis
The neuropathological examination revealed not only neuronal loss with gliosis in the facial nucleus, hypoglossal nucleus, and anterior horns of the spinal cord, but also loss of Betz cells and degeneration of the pyramidal tracts. [ncbi.nlm.nih.gov]
Neuropathological examination disclosed not only neuronal loss with gliosis in the hypoglossal nucleus and anterior horns of the spinal cord, but also loss of Betz cells and degeneration of the pyramidal tract. [doi.org]
(A–D) Loss of Betz cells in the primary motor cortex: stage ( ), the Betz cells were spared in number and gliosis was absent (A); stage ( ), mild neuronophagia and gliosis were noted (B) and stage ( ), marked neuronophagia and glial proliferation were [bmjopen.bmj.com]
Loss of motor neurons and hypercellularity due to gliosis. At one end of the spectrum, SMA 0, are cases that have a prenatal onset, paralysis of facial and extraocular muscles, and a very short survival. [neuropathology-web.org]
Treatment
Offers practical, clinically relevant material for the diagnosis and treatment of musculoskeletal conditions. [books.google.com]
Review decision on the use of Riluzole for the treatment of motor neurone disease. [gpnotebook.co.uk]
The patient improved clinically and symptom progression ceased after initiation of treatment. There was complete resolution of the abnormal brain MRI lesions; however, the cervical spinal cord MRI lesion and muscular atrophy remained unchanged. [ncbi.nlm.nih.gov]
Treatment There is no cure for ALS, and no treatment that can significantly alter its course. [medical-dictionary.thefreedictionary.com]
After the diagnosis is made the doctor will discus treatment options with the patient. The actual treatment that is effective in stopping the deterioration of the nerve is still unknown. [ic.steadyhealth.com]
Prognosis
The distinction is important because PMA is associated with a better prognosis than classic ALS. [en.wikipedia.org]
Axial onset, however, predicts the early onset of respiratory failure, and a poor prognosis. [ncbi.nlm.nih.gov]
The prognosis for this disorder is almost never good as the patient does not live form more than a several years after he or she is diagnosed with it. [ic.steadyhealth.com]
Prognosis .—This is unfavorable as to cure, though in rare cases the progress of the atrophy is arrested. Treatment .—Medication has but little effect upon the progress of the disease. [henriettes-herb.com]
Etiology
In addition, the patient developed progressive muscular atrophy of unknown etiology at the beginning of the third decade, and is bedridden at the present time. [ncbi.nlm.nih.gov]
The weight of available evidence concerning its etiology, most recently reviewed by England and Denny-Brown, 1 is in favor of an affection of the spinal cord and of peripheral nerves being the primary process, the muscular changes being secondary; but [jamanetwork.com]
Epidemiology
3] [4] Epidemiological data refers to the US, unless otherwise specified. [amboss.com]
Epidemiological characteristics of motor neuron disease in Chinese patients. Acta Neurol Scand. 2014;130:111–7. pmid:24689740 View Article PubMed/NCBI Google Scholar 8. [journals.plos.org]
Epidemiology Incidence 0.5–1.5/105, more common in men, usually age 50; occurs randomly throughout the world with local clustering on the Kii Peninsula, Japan, and Guam, where it is associated with dementia, parkinsonism, and Alzheimer’s disease. [medical-dictionary.thefreedictionary.com]
SMA with respiratory distress (SMARD1) Inheritance is autosomal recessive due to mutations in the IGHMBP2 gene on chromosome 11q13. [ 9 ] Epidemiology The estimated incidence is between 1 in 6,000 and 1 in 10,000 live births and the carrier frequency [patient.info]
Pathophysiology
A patient presenting with PMA with rapid clinical evolution likely has the pathology and pathophysiology of ALS whether or not upper motor neuron signs evolve. [ncbi.nlm.nih.gov]
References: [5] [3] [6] Pathophysiology The dystrophin protein anchors the cytoskeleton of a muscular cell to the extracellular matrix by connecting cytoskeletal actin filaments to membrane-bound dystroglycan that is, in turn, connected to extracellular [amboss.com]
Advances in treating amyotrophic lateral sclerosis: insights from pathophysiological studies. Trends Neurosci 2014;37:433-42. Brooks BR, Miller RG, Swash M, Munsat TL. [acnr.co.uk]
Pathophysiology Spinal muscular atrophy (SMA) types I-III Inheritance is autosomal recessive. Affected individuals have two copies of the altered gene. Those who carry one copy are usually unaffected carriers. [patient.info]
Prevention
Discusses physical agents and therapeutic exercise in the prevention, diagnosis, treatment and rehabilitation of disorders that produce pain, impairment, and disability. [books.google.com]
Prevention There is no known way to prevent ALS or to alter its course. Resources Books Feldman, Eva L. "Motor neuron diseases." In Cecil Textbook of Medicine, edited by Lee Goldman and J. Claude Bennett, 21st ed. Philadelphia: W.B. [medical-dictionary.thefreedictionary.com]
Improve Your Chances by Hiring a Disability Attorney If you've been denied benefits for muscular atrophy that prevents you from working, an experienced disability attorney can help you navigate the confusing disability appeals process. [disabilitysecrets.com]
Physical therapy, occupational therapy, and rehabilitation may help to improve posture, prevent joint immobility, and slow muscle weakness and atrophy. [web.archive.org]
There is currently no way to prevent or reverse muscular dystrophy, but different kinds of therapy and drug treatment can improve a person's quality of life and delay the progression of symptoms. [medicalnewstoday.com]