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]
Musculoskeletal
- 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]
KEYWORDS: Lower motor neuron syndrome; Lower motor neuron-onset ALS; PMA; Progressive muscular atrophy [ncbi.nlm.nih.gov]
atrophy and cerebral palsy Medical condition: Spinal muscular atrophy type II (SMA II) Cerebral palsy (CP) Disease: Version SOC Term Classification Code Term Level 20.1 10010331 - Congenital, familial and genetic disorders 10041582 Spinal muscular atrophy [clinicaltrialsregister.eu]
- Muscle Twitch
This then leads to fasciculations (muscle twitches), progressively worsening muscle weakness, and a loss of muscle mass and weight. The facts: PMA affects about five to seven percent of people with MND. [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]
Treatment
SPINRAZA was well-tolerated with no new safety concerns identified after up to nearly 4 years of treatment. [news.cision.com]
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]
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]
prognosis of these patients 7,8. [radiopaedia.org]
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]
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]
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]
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]
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]
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]
Physical therapy helps people maintain muscle strength and keep joints flexible and thus helps prevent contractures. Nurses or other caregivers must feed people with swallowing difficulties carefully to prevent choking. [merckmanuals.com]