Read Full Text: MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options
Journal: Molecular Genetics and Metabolism (Impact Factor 2018: 3.6)
Year Published: 2015
Ranked 3rd on our 2015-2020 list of the 100 most influential OT-related articles
MELAS syndrome is rare. But, even in my small town, it is statistically likely that we have one person with the diagnosis. (The syndrome is estimated to impact 1/4000 people.)
This week’s article is an extremely helpful “mini-review” of what we currently know (and don’t know) about MELAS syndrome, including specific considerations for OT treatment.
In the article, we also see a continued trend for how OTs should treat chronic conditions. Specifically, we should be taking a team-based approach—and we cannot afford to forget about exercise or leave it to other colleagues…the benefits are potentially too important.
What causes MELAS syndrome?
MELAS stands for “Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes.”
If you remember from biology classes, the cells in our bodies contain structures called mitochondria, which work to convert nutrients into energy. People with MELAS syndrome have dysfunctional mitochondria (typically due to genetic mutations), and thus lack sufficient energy to meet specific organs’ needs.
For the vast majority of patients, the symptoms of MELAS syndrome begin to manifest between ages 2 and 20.
MELAS is maternally inherited. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit this disorder from their mother.
What clinical manifestations should we help manage/watch for?
You’ll find that working with a patient with MELAS syndrome will call upon the full range of your OT skills.
Since there is dysfunction occurring at the cellular level, nearly every system in the body can be impacted by this syndrome. You can see this illustrated by the breadth of symptoms listed below.
The article provides helpful detail about the many levels of symptomatology these patients may experience. Here are the ones I found to be particularly relevant to our therapy:
≥ 90% of MELAS syndrome patients experience:
- Stroke-like episodes
- Dementia
- Epilepsy
- Exercise intolerance
75-89% of patients experience:
- Hemiparesis
- Vision loss
- Recurrent headaches
- Hearing impairment
- Muscle weakness
50-74% of patients experience:
- Peripheral neuropathy
- Learning disability
- Memory impairment
- Recurrent vomiting
- Short stature
25-49% of patients experience:
- Myoclonus
- Ataxia
- Episodic altered consciousness
- Gait disturbance
- Depression
- Anxiety
- Psychotic disorders
- Diabetes
<25% of patients experience:
- External ophthalmoplegia
- Motor development delay
- Vitiligo
What does the article recommend for management of MELAS syndrome?
First and foremost, it is important to recognize there is no cure for MELAS syndrome; treatment should be supportive and focused on helping patients manage symptoms.
The article states that there is no consensus approach for treating individuals with the condition. However, the following recommendations relevant to OT were made in the article:
- Management should involve a multidisciplinary team
- The following evaluations are recommended:
- A diagnostic visit with follow-up visits as merited
- A comprehensive neurological exam, including cognitive assessments
- Regular exercise can improve exercise capacity in individuals with MELAS syndrome:
- Endurance training can induce mitochondrial biogenesis
- Resistance training can induce transferring normal mitochondrial templates to satellite cells
Up to Date (2018) gives more specific recommendations for exercise for patients with MELAS syndrome:
“Given the data, we suggest routine moderate-level aerobic exercise (e.g. walking, running, cycling, or swimming) combined with regular mild-resistance strength training for patients with mitochondrial disorders who are able to participate in physical activity.”
Takeaways for OT practitioners
(These are my personal takeaways, and were not mentioned in the article.)
Your holistic OT care is among the few treatment recommendations for these patients. In the absence of clear answers, your individual clinical reasoning is needed.
Whenever I read about complex conditions like this, I am struck by the gravity and importance of quality OT care.
These patients have few treatment options, none of them which are curative. So, the care provided by you as occupational therapists is extremely important. This disease is highly variable in its presentation—thus, it requires your full breadth of training to help these patients navigate their symptoms so they can participate in their lives as fully as possible.
We see again that exercise can provide a very specific counterattack to the root cause of the disease.
The research we’ve examined has illuminated an interesting trend: exercise is often most important and helpful for the patients who find it most challenging.
And, it may take the help of a therapist (you) to help patients safely establish healthy exercise habits, considering their limitations.
As we’ve discussed in other chronic conditions, like osteogenesis imperfecta (OI) and Parkinson’s Disease (PD), exercise not only provides general health benefits—it can sometimes even directly combat the root cause of the disease. In the case of patients with MELAS syndrome, exercise can actually stimulate healthy mitochondrial formation!
Now, exercise is not a cure-all, and it is still being studied in this population. But, between the promising disease-specific evidence, its known health benefits, and its overall low risk, the importance of exercise should not be ignored.
Listen to my takeaways in podcast form:
Find other platforms for listening to the OT Potential Podcast here.
(Possibly) Earn CEUs/PDUs for reading this article
Many of you can receive continuing education credits for reading this article. Here’s a form 1to help you do it, along with information to help you understand who qualifies.
And, here’s the full APA citation you many need:
El-Hattab, A. W., Adesina, A. M., Jones, J., & Scaglia, F. (2015). MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options. Molecular Genetics and Metabolism, 116(1-2), 4–12. doi: 10.1016/j.ymgme.2015.06.004
