Respiratory onset can present with: Dyspnoea and orthopnoea. [patient.info]

On physical exam, signs of hyperreflexia, spasticity, fasciculations, and muscle atrophy are present in an asymmetric fashion. Tongue fasciculations are also present. No sensory loss is noted. [medbullets.com]

[…] in ALS (which can present in a single extremity mimicking cubital/carpal tunnel syndrome), but absent in peripheral neuropathy ALS has normal sensory studies on EMG/NCS Treatment Nonoperative currently no cure or effective treatment goals of treatment [orthobullets.com]

Typical Presentation: Gradual onset, progressive muscle failure weakness, fatigue, problems with swallowing, abnormal reflexes, cramping, fasciculations [athenadiagnostics.com]

Acronym ALS1 Synonyms FALS Familial amyotrophic lateral sclerosis Lou Gehrig disease Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

• Pain

  If pain develops as the disease progresses (for example, if pain occurs when a person has to sit in one position too long), benzodiazepines, which are mild sedatives, may be used. [msdmanuals.com]

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

  Pain may result from muscle contractures and secondary effects on joints. Muscle cramps occur in almost all patients and may cause severe pain and sleep disturbance. Physical therapy can ameliorate many of the painful symptoms of ALS. [aafp.org]

  Pain often goes under-recognised and undertreated. It is thought to be due to spasticity but other mechanisms may be operant. [patient.info]

  […] dysarthria lower motor neuron (LMN) signs muscular atrophy weakness clinical fasciculations clumsiness Evaluation Diagnosis dependent on demonstration of both UMN and LMN involvement combination of UMN and LMN in the same extremity, in the absence of pain [orthobullets.com]

• Inflammation

  […] caspase enzymes may lead to destruction of motor neurons in ALS. 1 Death signals are thought to start in the cell body and then travel down the nerve fibers. 1 Caspase activation is the hallmark of apoptosis and caspases also function in necrosis and inflammation [mybiosource.com]

  […] other disorders, doctors may do the following: Blood tests to check for infections and metabolic disorders Urine tests to check for heavy metals (such as lead or mercury) if people have been exposed to them A spinal tap (lumbar puncture) to check for inflammation [msdmanuals.com]

  Complex pathophysiological processes, including mitochondrial dysfunction, aggregation of misfolded protein, oxidative stress, excitotoxicity, inflammation and apoptosis, involve both motor neurons and surrounding glial cells. [touchneurology.com]

  […] results available) EudraCT Number: 2015-005347-14 Sponsor Protocol Number: H2020/PHRC-N/2014/GB-01 Start Date * : 2016-08-25 Sponsor Name: CHU DE NIMES Full Title: Efficacy and safety of low-dose IL-2 (ld-IL-2) as a Treg enhancer for controlling neuro-inflammation [clinicaltrialsregister.eu]

  Oxidative stress Other CNS Brainstem: Loss of motor neurons: Sparing of extraocular nuclei Precentral cortex: Loss of Betz & other pyramidal cells Sural nerve 39 Axons: Normal or Mildly reduced number Vessels, Epineurial: Some patients with perivascular inflammation [neuromuscular.wustl.edu]

• Cough

  There are several techniques to help people increase forceful coughing, including mechanical cough assist devices and breath stacking. [ninds.nih.gov]

  A weakened cough due to diaphragmatic and bulbar muscle weakness can lead to excess secretions, poor airway clearance and aspiration. [touchneurology.com]

• Respiratory Distress

  Respiratory distress and the sensation of choking may respond to opioid medications but this must be balanced against their tendency to cause respiratory suppression; they are very useful to treat this symptom in the palliative phase. [patient.info]

  What should I do if respiratory distress develops in my patient? My patient cannot feed himself/herself and cannot take a bath alone. How can I help him/ her (Questionnaire 1)?” [hsj.gr]

• Muscular Atrophy

  […] lateral sclerosis G12.24 Familial motor neuron disease G12.25 Progressive spinal muscle atrophy G12.29 Other motor neuron disease G12.8 Other spinal muscular atrophies and related syndromes G12.9 Spinal muscular atrophy, unspecified G13 Systemic atrophies [icd10data.com]

  Vaincre les myopathies, 2017, 181, p.16-17 Définir le concept de nodopathie et de paranodopathie Camdessanché JP Neurologies, 2017, 19, 187, p 106 Linking Amyotrophic Lateral Sclerosis and Spinal Muscular Atrophy through RNA-transcriptome homeostasis: [myobase.org]

  With pure LMN features (progressive muscular atrophy). [patient.info]

  Lateral Sclerosis Benign Focal Amyotrophy of ALS Infantile Spinal Muscular Atrophy, ALS Juvenile Spinal Muscular Atrophy, Included Kugelberg-Welander Disease Primary Lateral Sclerosis Progressive Bulbar Palsy, Included Spinal Muscular Atrophy, Type ALS [rarediseases.org]

  atrophy weakness clinical fasciculations clumsiness Evaluation Diagnosis dependent on demonstration of both UMN and LMN involvement combination of UMN and LMN in the same extremity, in the absence of pain or sensory symptoms, and cranial nerve findings [orthobullets.com]

• Muscle Twitch

  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. [msdmanuals.com]

  ALS may start with intermittent muscle twitching, weakness and in some cases slurred speech. [physio-pedia.com]

  The earliest symptoms include muscle twitching, cramping, stiffness, or weakness. Affected individuals may develop slurred speech (dysarthria) and, later, difficulty chewing or swallowing (dysphagia). [ghr.nlm.nih.gov]

  Early symptoms include: Muscle twitches in the arm, leg, shoulder, or tongue Muscle cramps Tight and stiff muscles (spasticity) Muscle weakness affecting an arm, a leg, the neck, or diaphragm Slurred and nasal speech Difficulty chewing or swallowing The [ninds.nih.gov]

• Muscle Spasm

  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. [msdmanuals.com]

  Baclofen may reduce muscle spasms in some patients. Patients troubled by leg cramps may benefit from quinine compounds. [rarediseases.org]

• Leg Cramp

  Leg cramps may occur during the night, most frequently in the calf and/or thigh muscles. Gradually, additional muscles become involved. Amyotrophic lateral sclerosis may progress quickly or slowly. [rarediseases.org]

  FDA bans quinine for nocturnal leg cramps. Drug Utilization Rev. 1995; Oct:150. 26. Moss AH, Casey P, Stocking CB, Roos RP, Brooks BR, Siegler M. [aafp.org]

• Hyperreflexia

  […] and positive waves) + decreased recruitment in ≥ 3 extremities reinnervation abnormal spontaneous fibrillation & fasciculation potentials normal sensory studies (SNAP, sensory nerve action potentials) Differentials Peripheral compressive neuropathy hyperreflexia [orthobullets.com]

  On physical exam, signs of hyperreflexia, spasticity, fasciculations, and muscle atrophy are present in an asymmetric fashion. Tongue fasciculations are also present. No sensory loss is noted. [medbullets.com]

  The diagnostic process consists of a history and physical examination, repeated at regular intervals, to document progressive hyperreflexia, fasciculations, and upper and lower motor neuron involvement. [aafp.org]

  Clinical manifestations include progressive weakness, atrophy, fasciculation, hyperreflexia, dysarthria, dysphagia, and eventual paralysis of respiratory function. [icd10data.com]

  Clinical Loss of fine motor skills, triad of atrophic weakness of hands and forearms; leg spasticity; generalised hyperreflexia. Management Possibly riluzole. [medical-dictionary.thefreedictionary.com]

• Myelopathy

  Radiation-induced myelopathy Type 1 Excludes myelopathy NOS ( G95.9 ) paralysis G12.20 ICD-10-CM Diagnosis Code G12.20 Motor neuron disease, unspecified 2016 2017 2018 2019 Billable/Specific Code meaning progressive muscular atrophy G12.21 Duchenne-Aran [icd10data.com]

  Diagnosis dependent on demonstration of both UMN and LMN involvement combination of UMN and LMN in the same extremity, in the absence of pain or sensory symptoms, and cranial nerve findings is highly indicative of ALS often misdiagnosed as cervical myelopathy [orthobullets.com]

  Dual pathologies: A cervical myelopathy and a co-existent peripheral neuropathy can present as a mixed upper-lower motor neurone picture. Sensory signs and symptoms and absence of bulbar symptoms help to diagnose this. [patient.info]

  […] signs in a region rostral to the lower motor neuron signs Variant syndromes Primary muscular atrophy (PMA) : Lower motor neuron signs only Primary lateral sclerosis (PLS): Upper motor neuron signs only ALS-FTD Possible differential diagnoses Spondylitic myelopathy [neuromuscular.wustl.edu]

• Hyperactivity

  Paraspinous Posterior neck Jaw weakness: Closure; Opening Voice Nasal, slurred speech Continuous emission of sound Tongue Weak Movement Slow Reduced amplitude Relatively preserved bulk: Often Associated signs Movement of jaw with tongue Jaw reflex: Hyperactive [neuromuscular.wustl.edu]

  Reflexes were hyperactive and fasciculations were observed in the right leg. Within two years, the patient became severely disabled because of generalized weakness. [aafp.org]

• Dizziness

  Unfortunately, these drugs can increase weakness and cause sedation, dizziness and other adverse effects. Pain may result from muscle contractures and secondary effects on joints. [aafp.org]

  […] meta-analysis of three trials that included 876 riluzole-treated and 406 placebo-treated patients showed that riluzole prolongs survival by approximately 11 %, or about two months. 62 The most common side effects are fatigue, somnolence, nausea, diarrhoea and dizziness [touchneurology.com]

[…] and support There is no cure for motor neurone disease, but treatment can help reduce the impact the symptoms have on your life. [nhs.uk]

Treatment There is no cure for ALS, and no treatment that can significantly alter its course. [medical-dictionary.thefreedictionary.com]

At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you. Know why a new medicine or treatment is prescribed, and how it will help you. [cedars-sinai.edu]

Nonoperative currently no cure or effective treatment goals of treatment provide supportive care prevent progression maintain independent patient function and comfort riluzole indications modest benefits only prolongs life by 2-3 months mechanism blocks [orthobullets.com]

In addition, people with ALS may experience a better quality of life in living with the disease by participating in support groups and attending an ALS Association Certified Treatment Center of Excellence or a Recognized Treatment Center. [alsa.org]

This cautious approach is understandable, given the prognosis of the illness and the devastation that being given the diagnosis may cause to a person's life. [patient.info]

[…] hyperintensity in the corticospinal tracts (specificity 6 GRE/SWI: hypointensity in the precentral gyrus bilaterally, known as the " motor band sign " 8,9 MR spectroscopy 2 decreased NAA decreased glutamate increased choline increased myo-inositol Treatment and prognosis [radiopaedia.org]

Multidisciplinary clinics 17 and noninvasive ventilation for those with respiratory failure ameliorate the prognosis slightly. [touchneurology.com]

Age at diagnosis continues to be the strongest predictor of prognosis; recall case reporting bias may play a role in estimates of survival time. [raredr.com]

Alternative treatment Given the grave prognosis and absence of traditional medical treatments, it is not surprising that a large number of alternative treatments have been tried for ALS. [medical-dictionary.thefreedictionary.com]

The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. [uniprot.org]

ALS is extremely rare, and the diagnostic odyssey can be rather arduous because other masquerading conditions or explanations often must be ruled out before ALS is formally diagnosed. 1, 2 The etiology or cause of nerve cell destruction in ALS remains [mybiosource.com]

[…] ncomms/2015/150610/ncomms8319/full/ncomms8319.html About the CRCHUM The Université de Montréal Hospital Research Centre (CRCHUM) improves the health of adults through a high-quality academic research continuum which, by improving our understanding of etiological [nouvelles.umontreal.ca]

Etiology ALS may have a multifactorial etiology or may result from a number of different neuronal insults. The major lines of investigation include genetic, viral, autoimmune 11 and neurotoxic hypotheses. [aafp.org]

Prognosis is poor; previous estimates of median survival from disease onset to death range from 20 to 48 months.[ 1 – 3 ] In most cases etiology is unknown, although a small proportion of cases appear to be of genetic origin.[ 4 ] A recent estimate of [raredr.com]

The epidemiology of amyotrophic lateral sclerosis. In Handbook of clinical neurology 2016 Jan 1 (Vol. 138, pp. 225-238). [physio-pedia.com]

American Journal of Epidemiology 151(11):1053–1059. Sorenson EJ, Stalker AP, Kurland LT, Windebank AJ. 2002. Amyotrophic lateral sclerosis in Olmsted County, Minnesota, 1925 to 1998. Neurology 59(2):280–282. [nap.edu]

Journal of epidemiology and community health 1992;46(5): 517–8. pmid:1479322 doi: 10.1136/jech.46.5.517 12. Kurian KM, Forbes RB, Colville S, Swingler RJ. [raredr.com]

Epidemiological predictions show that the incidence of ALS is going to increase in the next ten years, and this increase is going to stem from disease-specific findings rather than economic conditions or health care services [ 4, 10 ]. [hsj.gr]

Clinical epidemiology of amyotrophic lateral sclerosis. Neurol Clin. 1996;14:399–420. 10. Swash M, Schwartz MS. What do we really know about amyotrophic lateral sclerosis? J Neurol Sci. 1992;113:4–16. 11. Drachman DB, Kundel RW. [aafp.org]

Progress has been made in understanding the genetic defects and the pathophysiology of this crippling motor neuron disease (commonly called Lou Gehrig’s disease). [nejm.org]

Numerous trials have targeted pathophysiological processes, but there have been no recent successes. [touchneurology.com]

Shrinkage and discolouration of the anterior nerve roots in the spinal cord occurs because of axonal degeneration of the neurones and the accompanying demyelination. [8] The pathophysiology behind the disease appears to be multi-factorial with complex [physio-pedia.com]

Pathophysiology This is a degenerative condition that affects motor neurons, namely the anterior horn cells of the spinal cord and the motor cranial nuclei. [patient.info]

Immediate and additional causes of death were categorized using an author-developed algorithm based on pathophysiology and potential relevance to patients with advanced ALS ( Table 1 ). Table 1. [raredr.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]

Treatment and prevention There is no cure for ALS, so treatment aims to alleviate symptoms, prevent unnecessary complications, and slow the rate of disease progression. [medicalnewstoday.com]

[…] royalties for patents on “Method for the diagnosis of familial amyotrophic lateral sclerosis” (US 5,843,641) and “Mice having a mutant SOD1 encoding transgene” (US 6,723,893), holding a patent for “Compounds and method for the diagnosis, treatment and prevention [nejm.org]

People may begin using suction devices to remove excess fluids or saliva and prevent choking. [ninds.nih.gov]