The overall clinical presentation was consistent with motor neurone disease. Cerebrospinal fluid analysis revealed mild pleocytosis and increased protein concentration. [ncbi.nlm.nih.gov]

• Weakness

  She developed muscle weakness of the distal part of the left lower extremity at age 42, followed by muscle weakness and atrophy of the right lower extremity and upper extremities. At age 57, she needed transient ventilatory support. [ncbi.nlm.nih.gov]

  Signs and symptoms include muscle weakness, atrophy, and fasciculation Group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal [icd9data.com]

  A person with bulbar weakness may become hoarse or tired after speaking at length, or speech may become slurred. In addition to weakness, the other cardinal signs of ALS are muscle wasting and persistent twitching (fasciculation). [medical-dictionary.thefreedictionary.com]

  The condition results in a weakness in one’s lower limbs and some people also suffer from weakness in their hands and speech issues. [mymed.com]

• Fatigue

  We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: May 13, 2019 [patientslikeme.com]

  These include criteria for the diagnosis of multiple sclerosis, dementia of Lewy-body type, frontal lobe dementias, chronic fatigue syndrome, and inflammatory neuropathies. [books.google.com]

  PMA symptoms include: muscle weakness, atrophy, fatigue, cramps, fasciculations, muscle twitches and a degradation of your reflexes Most often PMA begins with loss of strength in one hand, though it can also be in your tongue or a foot. [mndcentre.org.uk]

  Fatigue is one of the prime symptoms that everyone who has CMT seems to experience. [science.jrank.org]

  Diagnosis is often delayed and can take more than 16 months from the onset of initial symptoms, which are commonly non-specific and include general fatigue. 2.6 The incidence of ALS ranges from 1.8 to 2.2 per 100,000 population and prevalence ranges from [nice.org.uk]

• Asymptomatic

  These parents are likely to be asymptomatic (without symptoms of the disease). Autosomal recessive diseases often affect more than one person in the same generation (siblings or cousins). [web.archive.org]

  […] more information Answer ALS: Individualized Initiative for ALS Discovery 12th October 2015 Conditions : Amyotrophic Lateral Sclerosis; Primary Lateral Sclerosis; Flail Arm ALS; Progressive Muscular Atrophy; Monomelic Amyotrophy; Motor Neuron Disease; Asymptomatic [treat-nmd.eu]

  Carrier testing is available for adults and siblings over age 18. [ Carré: 2016 ] Although testing at-risk younger siblings who are asymptomatic for SMA is controversial, many experts feel that early identification of children with SMA may improve clinical [medicalhomeportal.org]

• 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]

• Vomiting

  […] regions and scoliosis Inability to walk by approx. 12 years of age Cardiac and respiratory muscle involvement Dilated cardiomyopathy Cardiac arrhythmias Respiratory insufficiency Cognitive impairment In late stages: nocturnal hypoventilation, dysphagia, vomit [amboss.com]

  There is a risk of adverse reactions occurring as part of the lumbar puncture procedure (e.g. headache, backpain, vomiting). The timing of SPINRAZA availability in the EU will vary by country, per local reimbursement and access pathways. [businesswire.com]

  The most common adverse events observed were headache, vomiting and back pain. Serious infections of hydrocephalus and meningitis have been observed in the post-marketing setting. [news.cision.com]

• 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]

  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]

  KEYWORDS: Lower motor neuron syndrome; Lower motor neuron-onset ALS; PMA; Progressive muscular atrophy [ncbi.nlm.nih.gov]

• 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]

• Progressive Muscle Wasting

  Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder characterized by progressive muscle wasting and eventual loss of muscle function due to severe motor neuron dysfunction. [acs.org]

  New York, NY (May 15, 2017)— Spinal muscular atrophy (SMA), a neurodegenerative disease that causes progressive muscle wasting and paralysis, may be partly due to abnormalities in the synapses that connect sensory neurons and motor neurons, according [newsroom.cumc.columbia.edu]

• Ataxia

  He extensively wrote on hereditary spinocerebellar degeneration and ataxia, but also on PMA and true and spurious muscle hypertrophy. [zvab.com]

  Many of his important contributions involved pediatric patients, most notably those with muscle disease and ataxia. His studies of heredity spinal ataxia, however, are justly regarded as classics. [hagstromerlibrary.ki.se]

  G11.3 Cerebellar ataxia with defective DNA repair G11.4 Hereditary spastic paraplegia G11.8 Other hereditary ataxias G11.9 Hereditary ataxia, unspecified G12 Spinal muscular atrophy and related syndromes G12.0 Infantile spinal muscular atrophy, type [icd10data.com]

• Babinski Sign

  During the clinical course, neurological examination revealed neither Babinski signs nor hyperreflexia. [ncbi.nlm.nih.gov]

  The occurrence of upper motor neurone symptoms such as brisk reflexes, spasticity, or a Babinski sign would indicate a progression to ALS; the correct diagnosis is also occasionally made on autopsy. [en.wikipedia.org]

  During the clinical course, neurological examination revealed neither Babinski sign nor hyperreflexia. No respirator administration was performed throughout the clinical course. [doi.org]

  sign positive) Flexor (= normal; Babinski's sign negative) Extraneous muscle activity No fasciculations/fibrillations Fasciculations and fibrillations amyotrophic lateral sclerosis (ā·mī· ·trō·fik laˑ·t ·r l skl ·rōˑ·sis), n a fatal neurological condition [medical-dictionary.thefreedictionary.com]

• Confusion

  In favour of considering PMA a separate disease, some patients with PMA live for decades after diagnosis, which would be unusual in typical ALS.To this day, terminology around these diseases remains confusing because in the United Kingdom motor neurone [en.wikipedia.org]

  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]

  It tends to cause proximal weakness and may be confused with myopathy. Patients can walk initially but usually lose this ability later. The difference in severity between the various SMN types has to do with the number of SMN2 copies. [neuropathology-web.org]

  Other immune-mediated demyelinating neuropathies have more sensory involvement and are rarely confused with MMN. [neuromuscular.wustl.edu]

• Irritability

  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]

  Diagnosis can also be made by doing an electromyogram (EMG) that measures the irritability and function of muscles and motor nerve-conduction velocity (MNCV) tests that establish the ability of nerves to send and receive impulses. [science.jrank.org]

  […] extreme end of the spectrum, frontotemporal dementia may develop in up to 15% of ALS patients, 6,24 and is clinically characterised by executive and language dysfunction, irrational behavioural, personality changes, apathy, poor insight, loss of empathy, irritability [acnr.co.uk]

• Paresis

  We present a male patient with exclusively left-side flaccid paresis due to lower motor neuron disease without electromyographic evidence of neurogenic lesion of contralateral muscles and with no signs of corticospinal tracts involvement. [ncbi.nlm.nih.gov]

  […] numerous cellular signaling pathways → necrosis of affected muscle cells and subsequent replacement with connective and fat tissue → muscle appears larger (“ pseudohypertrophy ”) References: [5] Clinical features Duchenne muscular dystrophy ( DMD ) Paresis [amboss.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]

Treatments for SMA It's not currently possible to cure SMA, but research is ongoing to find possible new treatments. Treatment and support is available to manage the symptoms and help people with SMA have the best possible quality of life. [nhs.uk]

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]

In 21 people with muscular atrophy in only specific parts of the arm, for more than four years, the prognosis was good: they were likely to survive for many years with little deterioration of muscle function. [alzforum.org]

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]

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]

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]

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]