- What stage am I in? Staging ALS is a bit complicated and not totally accurate, but one way of doing it is based on the number of body areas affected. In ALS, body regions are (1) arms, (2) legs, (3) trunk/diaphragm, and (4) bulbar (mouth). Roche and others proposed a staging system as follows: “Stage 1: symptom onset (involvement of first region); Stage 2A: diagnosis; Stage 2B: involvement of second region; Stage 3: involvement of third region; Stage 4A: need for gastrostomy (feeding tube); and Stage 4B: need for non-invasive ventilation.” In their study, the average time from symptom onset to diagnosis was about a year, and the second region was affected after 16-20 months and the third after 21-26 months. A feeding tube was required by 25-30 months, and noninvasive ventilation was started in 26-34 months. (reference Brain 2012; 135; 847–852) (Kings Staging)
- How does ALS spread and what can I expect to be affected next?Assuming there is progression, there are up to 8 different patterns of spread. Most commonly, there is spread from one spinal or brainstem region to the next and across the region so that symptoms affect the other side of the body. For example, if the left arm is affected, the right arm may be affected next. If the arms are affected, the next body region could be the trunk or leg or it could be bulbar (mouth region). Spread to more distant areas occurs less commonly. There are also less common spread patterns up or down one side of the body (leg, arm, mouth) and crossing limbs; for example right arm to left leg. (reference Gargiulo-Monachelli GM et al. Eur J Neurol 2012;19:834-841).
- How fast will my ALS progress? The rate of progression is variable, and we cannot be sure about anyone’s rate of progression. Over time, we are better able to provide information about it. It tends to be more or less linear but sometimes there are step-wise changes or plateaus. We have had a few patients stop progressing. Breathing function is less predictable than overall function. We use the ALS functional rating scale (ALSFRS) that assesses bulbar (swallowing, speech), fine motor, and gross motor functions, and breathing. The scale is from 0-48. We also follow breathing function and measure the forced vital capacity (FVC). In general, the ALSFRS and FVC scores decrease by about 20% per year. If the decline in ALSFRS is more than 0.5 points per month, progression may be faster than average. Breathing declining at more than 3% per month also suggests a faster rate of progression. Patients over age 80, very low body weight, and those with bulbar or primary breathing dysfunction at onset tend to do worse.
- How did I get ALS? In about 15% of patients, it was inherited, and there are more than 30 or so genetic causes of ALS. In everyone else, we do not know. There are some apparent risk factors, but they are not very robust and do not seem to be dose-dependent like smoking causing lung cancer. There is some increased risk of getting ALS in smokers however. There seems to be an increased risk from head trauma, but there is controversy. Those serving in the military have an increased risk. There may be some increased risk from exposure to heavy metals and some other environmental toxins, but again these risks are unproven. One study noted an increase risk in patients with autoimmune diseases. There are a number of potential causes of degeneration of motor neurons, but how individuals are predisposed to this degeneration is also uncertain. It probably takes multiple "hits" to get ALS.
- What about stem cells, supplements, Deanna protocol, etc? Unfortunately, there is no proof of benefit from any of these. It is reasonable to use antioxidant supplements (see section Are There Treatments?). We do not have a positive recommendation for other supplements or therapies other than those listed. ALS Untangledhttp://www.alsuntangled.com/ is an excellent source for reviewing other unconventional therapies, none of which have scientific proof of benefit to date. The site rates the evidence and risk and provides many details.
- Is it safe to have surgery? There is probably some risk of ALS symptoms worsening after any surgery (Pinto et al. J Neuro Neurosurg Psychiatry 2013), but some ALS patients need to have surgery. There is increased risk of having difficulty breathing and with aspiration as well. We check breathing function preoperatively and ask the anesthesiologist to minimize paralyzing drugs and use short-acting sedatives to reduce the risk. General anesthesia is riskier than local or spinal anesthesia. The risk will vary among patients and depend on a number of factors, especially breathing function.
- Is it safe for air travel? See http://alsn.mda.org/article/air-travel-als-advance-planning-key for travel tips and planning. For patients with breathing dysfunction, we recommend a pulmonary consultation. Patients may may need a more thorough assessment of oxygen use under stress for example. Recommendations from the British Thoracic Society are found at https://www.brit-thoracic.org.uk/document-library/clinical-information/a...
- Can I have dental procedures? Good dental care is important and recommended for ALS patinets. See http://www.alsa.org/als-care/resources/publications-videos/factsheets/fy... dental procedures should not be a problem. Major procedures would be discussed with surgery (see 6) and could be problematic if the airway is compromised.
- How do I know if my swallowing difficulties are bad enough to lead to having food go into my lungs (down the wrong "pipe")?
- The following “tool” can be used to predict if you are at increased risk of aspirating food into the lungs:
Circle the appropriate response (subjective grading)
0 = No problem
1 = Little problem
2 = Mild problem
3 = Moderate problem
4 = Severe problem
1. My swallowing problem has caused me to lose weight. 0 1 2 3 4
2. My swallowing problem interferes with my ability to go out for meals. 0 1 2 3 4
3. Swallowing liquids takes extra effort. 0 1 2 3 4
4. Swallowing solids takes extra effort. 0 1 2 3 4
5. Swallowing pills takes extra effort. 0 1 2 3 4
6. Swallowing is painful. 0 1 2 3 4
7. The pleasure of eating is affected by my swallowing. 0 1 2 3 4
8. When I swallow food sticks in my throat. 0 1 2 3 4
9. I cough when I eat. 0 1 2 3 4
10. Swallowing is stressful. 0 1 2 3 4
A total EAT-10 score of >3 is abnormal and >8 is high risk
Belafsky PC, Mouadeb DA, Rees CJ, Pryor JC, Postma GN, Allen J, and Leonard RJ. Validity and reliability of the Eating Assessment Tool (EAT-10). Ann Otol Rhinol Laryngol 117: 919-924, 2008.
http://www.ncbi.nlm.nih.gov/pubmed/26510823http://www.ncbi.nlm.nih.gov/pubmed/26510823. 2016 Jan;28(1):85-90. doi: 10.1111/nmo.12700. Epub 2015 Oct 28.
Is it a good idea to take drugs that are available for other conditions like epilepsy but are still in testing for ALS? Is there anything to lose? We and others in ALS research have been frustrated to see many drugs undergo testing and fail even in the larger phase III trials after benefit seemed to be present in the earlier stage trials. In addition, some of the drugs, like topirimate, made patients worse, so there is a risk. Last, providing the drugs outside of clinical trials reduces the number of patients willing to be in the trials and impedes the progress of the trials. We encourage patients to seek trials whenever possible www.clinicaltrials.gov. Below is a partial list of tested drugs that had no proven benefit in ALS:
- Acetylcysteine
- Amantidine/guanidine
- Arimoclomol
- Beta interferon
- BCAA
- BDNF
- ceftriaxone
- Celecoxib
- Celecoxib/minocycline
- CNTF
- CoQ10
- Creatine-3
- Cyclosporin
- Dexpramipexole
- Dextromethorphan
- Erythropoietin
- Gabapentin
- Gangliosides
- Glatirimer
- Guanidine
- IGF-1- 5 trials
- Indinavir
- Inosiplex
- Lamotrigine
- Levamisole
- Lithium
- L-threonine
- Memantine
- Methionine/antiox
- Methylcobalamin
- Mexiletine
- Minocycline
- Nimodipine
- NP001
- Pentoxyfylline
- Physostigmine
- Pioglitazone
- Rasagiline
- Selegiline
- Talampanel
- TCH346
- Thalidomide
- Thyrotropin-6
- Tilorone
- Topirimate
- Ursodeoxycholic acid
- Valproic Acid
- Vitamin E
- Xaliproden
- Should my family members be tested for ALS? If there is no family history of ALS, and you do not have a known genetic cause, we do not recommend screening of family members for any of the more than 30 abnormal genes that can cause ALS. It would be optional to speak to a genetic counselor. If there is a history of another family member having ALS, we would suggest that you consider undergoing screening for a genetic cause of ALS. Your neurologist, genetic counselor, or both would discuss the options for testing, and you may want to look into whether such testing is covered by your insurance. If you have a known mutation that is associated with ALS, genetic testing of asymptomatic family members at risk could be considered, but this decision must be made carefully since there is no current treatment that would prevent symptoms from occurring, and some patients with a mutation may not become symptomatic. Knowing that there is a mutation could cause significant stress, but it could also help with future planning. This screening should be performed in conjunction with genetic counseling obtained via referral from your family member’s primary care physician. The following recommendations for genetic counseling of presymptomatic patients or family members at risk was published by Benatar et al. Neurology 2016;86:2295-2302. (Their screening was done on a research basis.)
- The decision to undergo presymptomatic genetic testing should be voluntary with informed consent obtained and documented, and it should only be performed in patients 18 years of age or older. The rationale for pursuing the testing should be explored fully.
- Individuals who undergo screening should be evaluated for psychosocial readiness to be certain that they can handle the results of the testing.
- The genetic counseling should be performed by specialists. Multiple counseling sessions may be required. Testing should be performed in a certified laboratory. Individuals should be informed as to whether or not the results will become part of their official medical record and what that could mean long term. There are many other recommendations that could be found in the paper mentioned above and individuals must be aware of the potential legal and other implications of genetic testing including the inability to obtain life, disability, and long term care insurance.
- Are cannabinoids, "medical marijuana", and related compounds of benefit in ALS?
There is evidence in animal models that cannabinoids may be beneficial as neuroprotective agents in ALS. There is some evidence of slowing or delaying disease in ALS mice. There are no good studies of these compounds in humans. Per a review by Sabrina Giacoppo and Emanuela Mazzon in Neural Regen Res. 2016 Dec; 11(12): 1896–1899.doi: 10.4103/1673-5374.197125 entitled ”Can cannabinoids be a potential therapeutic tool in amyotrophic lateral sclerosis?”, they report that:
“According to a single observational study of patients with ALS, only the 10% who admitted consuming Cannabis revealed moderate relief of several symptoms, including appetite loss, depression, pain, and drooling (Carter and Rosen, 2001; Amtmann et al., 2004).
In addition, spasticity is also a major problem for ALS patients, and one of these studies noted that Cannabis can subjectively improve spasticity (Amtmann et al., 2004). Moreover, a randomized, double-blind crossover study investigating the safety and tolerability ofΔ9-THC in ALS patients revealed that oralΔ9-THC administration was well tolerated, but a non-significant attenuation of cramp frequency and intensity were found. Other studies confirmed the same results, demonstrating that Cannabis is remarkably safe with realistically no possibility of overdose.
There are no clinical studies so far that have tried to prove the potential of cannabinoids as disease-modifying therapies as widely supported by experimental studies, so this hypothesis remains a major challenge for future research.”
Therefore, we do not know if these compounds are useful in ALS, but ALS is on the list of diseases for which medical marijuana may be used in Pennsylvania. However, our group will not be dispensing it, but it is available from certified dispensaries and certified physicians https://www.health.pa.gov/topics/Documents/Programs/Medical%20Marijuana/