Amiotrofična lateralna skleroza
Amiotrofična lateralna skleroza (ALS) ili Lou Gehrigova bolest pripada grupi neuroloških bolesti, koja zahvaća gornje i donje motorne neurone.[1][2][3] Jedna je od najčešćih bolesti motorike, a može se javiti pojedinačno ili kao nasljedna obiteljska bolest (10% svih slučajeva ALS-a). Za 20% nasljeđenih ALS-a dokazana je mutacija gena za citosol, bakar/cink superoksid dismutazu (SOD 1). Do danas je identificirano gotovo 50 SOD 1 mutacija kod osoba s obiteljskim ALS-om. Oboliti može svatko, no ALS najčešće pogađa sredovječne osobe.
| Amiotrofična lateralna skleroza (ALS) | |
|---|---|
 | |
| Ovaj MRI prikazuje povišeni T1 signal unutar posteriornog dela interne kapsule | |
| Specijalnost | neurologija |
| Klasifikacija i eksterni resursi | |
| ICD-10 | G12.2 |
| ICD-9 | 335.20 |
| OMIM | 105400 |
| DiseasesDB | 29148 |
| MedlinePlus | 000688 |
| eMedicine | neuro/14 emerg/24 pmr/10 |
| MeSH | D000690 |
Čak 20 000 ljudi u SAD boluje od ALS-a, prema podacima Nacionalnog instituta za neurološke poremećaje i moždani udar, a svake godine dijagnosticira se 5 000 novih slučajeva.
U početku ljudi mogu primijetiti slabost u mišićima, trzanje ili grčenje, a potom bolest progresivno onesposobljava hod, govor, gutanje i na kraju disanje. Mnogi provedu posljednje dane života u potpunosti paralizirani, dok im mozak i dalje funkcionira.
Klinička slika karakterizirana je progresivnim gubitkom mišićne mase i snage, fascikulacijama, spasticitetom, hiperrefleksijom i ekstenzornim plantarnim odgovorom (pozitivan znak Babinski refleksa), kao i razvojem dizartrije i disfagije.
Bolest ima brzi progresivni tijek, a jedini preporučeni lijek od strane FDA je riluzol. Iako tretman riluzolom može produljiti život pacijenta, njegovi učinci su skromni.
Reference
Vanjske veze
- Les Turner ALS Foundation
- Misao for a Cause Arhivirano 2015-08-01 na Wayback Machine-u A t-shirt charity created by Misao Apparel, to help benefit those diagnosed with ALS.
- Extra Hands for ALS
- ALS Association
- Stephen Hawking's Website Arhivirano 2006-08-08 na Wayback Machine-u
- Clinical Trial of Neurodex for Pseudobulbar Affect in People with Amyotrophic Lateral Sclerosis
- Lou Gehrig's Website Arhivirano 2008-05-09 na Wayback Machine-u
- ALS-Project - Free communication software for people suffering from ALS
- ALS Therapy Development Foundation
- PatientsLikeMe - a free online tool for ALS patients to track and share progress
- Duke ALS Clinic The Muscular Dystrophy Association (MDA) has recognized the Duke ALS Clinic as one of its distinguished ALS Research and Clinical Centers.
- Robert Packard Center for ALS Research at Johns Hopkins, a leader in ALS Research
- ALS Support Group ALSforums is an international online support group for individuals affected by ALS (Lou Gehrig's Disease).
- ALS-TDF forums are maintained by the ALS Therapy Development Foundation and focuses on answering scientific questions pertaining to ALS
- BrainTalk communities Arhivirano 2009-08-25 na Wayback Machine-u was one of the largest ALS/MND forums in the world but following a 2-month hardware failure is currently rebuilding its community.
- BUILD UK Arhivirano 2015-08-01 na Wayback Machine-u is for people affected by ALS/MND in the UK, but also has overseas members
- PatientsLikeMe is a telesocial medicine site which allows ALS/MND patients to record their symptoms and share information about treatments
- The ALS Advocacy Community Arhivirano 2007-09-28 na Wayback Machine-u is the ALS Association's online community offering. Members can partake in blogs, discussions, social network and many other features.
- The Patrick O'Brien Foundation A non-profit dedicated to promoting awareness of ALS, established in honor of Patrick Sean O'Brien - an artist diagnosed with ALS at the uncommonly early age of 30, who is chronicling his experience of the disease for a feature film.
- A Ride for 3 Reasons Arhivirano 2016-03-14 na Wayback Machine-u One man's solo ride across America on a bicycle to raise awareness and money for ALS research. Includes his daily weblog during the ride and profiles of families and individuals living with ALS.