gait disturbances Archives - Hormones Matter

Could the Way You Walk Indicate Mitochondrial Dysfunction?

Published on June 4, 2018

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The answer is an unequivocal, yes. The way you walk, your gait, can be diagnostic of mitochondrial disease and dysfunction. Whether your stride is long or short, rhythmic or arrhythmic, quick or slow, symmetrical or asymmetrical, balanced or unbalanced can indicate mitochondrial dysfunction. Even better, the particular pattern of gait disturbance may distinguish between types of mitochondrial disease, at least cursorily, and indicate whether and where there might be neural involvement. This, according to a study published in the Journal of Neurology.

In a small study of 24 patients with genetically confirmed mitochondrial mutations, researchers were able to discriminate between healthy controls and patients and between the two types of mitochondrial mutations assessed (m.3243A>G and m.8344A>G) based upon gait. Both patient groups were selected because of the known associations between those mitochondrial genotypes and gait disturbances. The questions were whether the pattern of gait disturbance could distinguish between the two groups and whether the gait disturbances could be detected early in the disease process before other symptoms fully emerged. That is, could the way patients walked be diagnostic of incipient mitochondrial disease?

About the Mitochondrial Mutations and Patients Tested

The first mutation m.3243A>G (n=18) is associated a disease called MELAS, which stands for mitochondrial encephalopathy, lactic acidosis, stroke like episodes. It is believed to represent one of the more common classes of mitochondrial mutation. The MELAS mutations are associated with a constellation of additional clinical symptoms, including Chronic Progressive External Ophthalmoplegia (CPEO; weakness in the eye muscles causing eyelid drooping), Maternally Inherited Deafness and Diabetes (MIDD), migraine, bowel problems and short stature.

The second mutation, m.8344A>G is associated with a rare mitochondrial disease called MERRF or myoclonic epilepsy with ragged-red fibers. The cardinal symptoms of MERRF include: muscle twitches (myoclonus), weakness (myopathy), and progressive stiffness (spasticity). However, like with MELAS and other mitochondrial diseases, the clinical presentation of symptoms is diverse with the myoclonic seizures developing in only 1 in 5 MERRF individuals. The remainder of patients present with a variety of symptoms including, generalized seizures, ataxia, cognitive decline, hearing loss, eyelid drooping, multiple lipomas (fatty growths or lumps between the skin and muscle), cardiomyopathy, neuropathy, exercise intolerance, increased creatine kinase levels. Individuals with the MERRF mutation may also have increased muscle wasting, respiratory impairment, diabetes, muscle pain, tremor and migraine.

Testing Gait: Walking, Balance, Energy and Strength Disturbances

For this study, researchers looked at five variables associated with gait disturbances:

Pace (step velocity and step length)
Rhythm (step time)
Variability (step length and step time variability)
Asymmetry (step time asymmetry)
Postural stability (step width, step width variability and step length asymmetry)

The gait testing involved walking on a sensor embedded mat which then calculated the above parameters. Additionally, the researchers assessed:

Mutation load with urinary epithelial testing
Energy expenditure (a body-worn multi-sensor)
Exercise capacity (peak oxygen consumption, heart rate response)
Muscle strength (hip flexor ad extensor strength)
MRI when available

Results

Compared to the healthy controls, individuals with mitochondrial disease demonstrated significantly reduced gait speed; they walked much more slowly. They also took smaller steps and had increase step time, width and length variability. Individuals with the MERRF mutations were noticeably worse and more globally impaired than those with the MELAS mutations and individuals bearing higher mutation loads and a longer disease trajectory performed most poorly. Universally reduced energy expenditure, exercise capacity and hip flexion and extension strength was observed across both patient groups compared to controls.

One of the more interesting and perhaps unanticipated findings was the association between aspects of gait and cerebellar atrophy. As might be expected, disturbances is balance and symmetry were correlated with cerebellar atrophy. What was interesting is that subtle changes in step width and length variability were observable in individuals with low mutation loads and who otherwise presented with fewer clinical symptoms, suggesting step variability may among the first signs of cerebellar involvement, before full blown ataxia is observed. If this bears out in additional research, walking may become an easy mechanism to test for mitochondrial dysfunction.

Connecting a Few Dots: Medication and Vaccine Induced Mitochondrial Dysfunction

Across many of the patient groups we work with at Hormones Matter, ataxia is a common symptom post medication and vaccine reaction and among individuals with thyroid disease (here and here). Often the ataxia presents with an array of other symptoms associated with mitochondrial disease, seizures, migraines, tremors, GI dysmotility, muscle weakness, neuropathy, to name a few. Since genotyping has not been conducted with these patients, it is not clear whether the medication or vaccine simply unmasked and expedited a latent mitochondrial mutation, triggered a functional mitochondrial deficit with symptoms corresponding with those manifested by more traditional genetic mutations, or some combination of both. Whatever the cause, however, it is becoming increasingly clear that many of the adverse reactions share phenotypes and follow trajectories similar to those associated with mitochondrial disease. Cerebellar involvement, being key among them. Based upon the research cited above, gait disturbances ought to be considered more closely and viewed as a marker of mitochondrial disease or dysfunction, particularly when the constellation of other mitochondrial associated symptoms presents concurrently.

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This article was posted originally October 13, 2014.

Why Fatigue Matters in Thyroid Disease

by Chandler Marrs, PhD

Published on August 1, 2017

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The notion that unremitting fatigue is a core clinical symptom is difficult for many physicians and patients to reconcile with its ubiquitous nature in illness. Here is yet another example of the importance of recognizing fatigue and the constellation of other clinical signs that manifest concurrently in thyroid disease. Here we see that fatigue represents a loss of mitochondrial function that, if left untreated, has some subtle and not so subtle effects on central nervous system functioning.

Some Background: Fatigue and the Mitochondrial Connection

Fatigue is one of the most common signs of mitochondrial dysfunction or deficit. Mitochondria, the energy factories within our cells, produce the ATP or cellular energy, that our bodies require to function. This process is called oxidative metabolism. As Dr. Lonsdale wrote about in How can Something as Simple as Thiamine Cause So Many Problems, consider each mitochondrion as a mini, combustion engine.

Fuel + Oxygen + Catalyst = Energy

Each of our one hundred trillion body/brain cells is kept alive and functioning because of this reaction. It all takes place in micro “fireplaces” known as mitochondria. Oxygen combines with fuel (food) to cause burning or the combustion – think fuel combustion engine. We need fuel, or gasoline, to burn and spark plugs to ignite in order for the engines to run.
In our body/brain cells it is called oxidation. The catalysts are the naturally occurring chemicals we call vitamins (vital to life). Like a spark plug, they “ignite” the food (fuel). Absence of ANY of the three components spells death.
Antioxidants like vitamin C protect us from the predictable “sparks” (as a normal effect of combustion) known as “oxidative stress”. Vitamin B1, is the spark plug, the catalyst for these reactions.

When there is dysfunction within this pathway, which is also called the OXPHOS or oxidative phosphorylation, when the engine doesn’t get the fuel it needs or the spark plugs don’t work, fatigue and other symptoms arise. Fatigue is an important clinical sign that something is amiss in our cellular combustion engines.

Mitochondria and Hypothyroidism – Beyond One Test One Drug

In chronic hypothyroidism, chronic mitochondrial deficits are clinical signs that can be recognized, if one is looking for them. They present as fatigue, and when chronic, as balance and gait disorders. Recall our discussion and videos on Hashimoto’s disease associated with walking and balance difficulties: Adverse Reactions, Hashimoto’s Thyroiditis, Gait Balance and Tremors – those examples pointed to mitochondrial dysfunction. Here is yet another example of the importance of recognizing subtle clinical signs of mitochondrial damage.

Watch and listen for the clinical signs. How many do you have?

Notice, he speaks of the importance of proper nutrition, of reducing inflammation, and of exercise and other modalities to correct the functional deficits of hypothyroidism and mitochondrial dysfunction. Notice also, the improvement in functioning after only eight weeks of treatment.

Datis Kharrazian: Developing the Clinical Eye to Discover the Causes of Fatigue from The Institute for Functional Med on Vimeo.

If you or a loved one suffers from chronic and unremitting fatigue rule out thyroid dysfunction and its sister condition mitochondrial damage. A simple TSH test, as is commonly considered, is not sufficient to find thyroid dysfunction. A full panel must given. Once a diagnosis is reached, remember thyroid medications, though they may be necessary, are not enough to correct mitochondrial damage. Diet and nutrients must considered. Put it all together and live healthier.

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This article was published originally on Hormones Matter on November 7, 2013.