Edit concept Question Editor Create issue ticket

Amyotrophic Lateral Sclerosis Type 1

ALS1


Presentation

  • 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]
  • Analyses suggest ALS patients may present with clinically relevant symptoms suggestive of connective tissue disorders, skin disorders, and nonspecific neurological complaints 5 years pre-diagnosis. Disclosure: Dr.[neurology.org]
  • 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]
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]
Amyloidosis
Pallor
  • The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates.[uniprot.org]
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]
  • 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]
  • Some of the early symptoms include: fasciculations (muscle twitches) in the arm, leg, shoulder, or tongue muscle cramps tight and stiff muscles (spasticity) muscle weakness affecting an arm, a leg, neck or diaphragm. slurred and nasal speech difficulty[rxlist.com]
  • Within 15 months, she also described difficulty in writing, weakness of the right hand and arm, and diffuse muscle twitching with painful muscle cramps. Assessment confirmed weakness of all limbs, more marked on the right side, with muscle atrophy.[aafp.org]
Muscle Spasm
  • Muscle tone typically increases, and muscles tend to become stiff and tight, leading to muscle spasms (called spasticity). Movements are stiff and clumsy. In some people, muscle tone decreases, making the limbs seem loose and floppy.[msdmanuals.com]
  • Baclofen may reduce muscle spasms in some patients. Patients troubled by leg cramps may benefit from quinine compounds.[rarediseases.org]
Arthritis
  • Alex Parker's team is already actively testing drugs that have been previously approved by the US Food and Drug Administration for treatment of such disorders as rheumatoid arthritis, to see if they work with ALS.[nouvelles.umontreal.ca]
  • Various other tests, including blood and urine tests, x rays, and CT scans, may be done to rule out other possible causes of the symptoms, such as tumors of the skull base or high cervical spinal cord, thyroid disease, spinal arthritis, lead poisoning[medical-dictionary.thefreedictionary.com]
Hyperreflexia
  • Clinical manifestations include progressive weakness, atrophy, fasciculation, hyperreflexia, dysarthria, dysphagia, and eventual paralysis of respiratory function.[icd10data.com]
  • […] difficulty muscle cramping urinary frequency or incontinence (late findings) sensory remains normal Physical exam neck ptosis (neck drop) due to neck extensor weakness manual muscle testing elicits muscle cramping upper motor neuron (UMN) signs spasticity 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 Loss of fine motor skills, triad of atrophic weakness of hands and forearms; leg spasticity; generalised hyperreflexia. Management Possibly riluzole.[medical-dictionary.thefreedictionary.com]
Ataxia
  • 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]
  • Examples: HIV, syphilis, myelitis, poliomyelitis, Lyme disease Endocrine disorders Examples: hyperthyroidism, hyperparathyroidism, diabetic radiculopathy Toxins Examples: lead, mercury Other Examples: postpolio syndrome, Huntington's disease, Friedreich's ataxia[aafp.org]
  • Home, Search, Index, Links, Pathology, Molecules, Syndromes, Muscle, NMJ, Nerve, Spinal, Ataxia, Antibody & Biopsy, Patient Info SPORADIC ALS Sporadic ALS: Common forms ALS: Epidemiology 7 Frequency statistics Incidence/100,000/year Overall: 0.4 to 3;[neuromuscular.wustl.edu]
Spastic Paraplegia
  • 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 I [Werdnig-Hoffman] G12.1 Other inherited spinal muscular atrophy G12.2 Motor[icd10data.com]
  • Paraplegia Foundation 1605 Goularte Place Fremont, CA 94539-7241 USA Toll-free: (877) 773-4483 Email: information@sp-foundation.org Website: Other Organizations ALS Society of Canada 3000 Steeles Avenue East, Suite 200 Markham Ontario, L3R 4T9 Canada[rarediseases.org]
Cerebellar Ataxia
  • ataxia 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[icd10data.com]
  • ataxia Cognitive decline Course: Rapidly progressive Laboratory Brain MRI: Cerebellar atrophy SMN1 Increased frequency (2x) of 1 or 3 gene copies in ALS FIG4 32 ALS Mutations Heterozygous Missense or Termination Frequency: 1% to 2% of ALS patients ALS[neuromuscular.wustl.edu]

Treatment

  • Full Title: A Prospective, Non-randomized, Open Label Study to Assess the Safety and the Efficacy of Autologous Multipotent Mesenchymal Stem Cells in the Treatment of Amyotrophic Lateral Sclerosis.[clinicaltrialsregister.eu]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • This allows us to administer treatment very early in the worm's life. But ALS is a disease of aging, which usually appears in humans around the age of 55.[nouvelles.umontreal.ca]
  • Background: The average time from symptom appearance to ALS diagnosis is 1 year, resulting in a detrimental delay in initiation of treatment and potentially precluding patients from enrolling in clinical trials.[neurology.org]
  • […] 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]

Prognosis

  • 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]

Etiology

  • 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]
  • […] 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]
  • 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]
  • 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]

Epidemiology

  • 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]
  • Home, Search, Index, Links, Pathology, Molecules, Syndromes, Muscle, NMJ, Nerve, Spinal, Ataxia, Antibody & Biopsy, Patient Info SPORADIC ALS Sporadic ALS: Common forms ALS: Epidemiology 7 Frequency statistics Incidence/100,000/year Overall: 0.4 to 3;[neuromuscular.wustl.edu]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • 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

  • Research Centre (CRCHUM) improves the health of adults through a high-quality academic research continuum which, by improving our understanding of etiological and pathogenic mechanisms, fosters the development, implementation, and assessment of new preventive[nouvelles.umontreal.ca]
  • 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]
  • Clinical trials offer hope for many people and an opportunity to help researchers find better ways to safely detect, treat, or prevent disease.[rxlist.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!