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Myoclonus / Fasciculations & Other Symptoms

4 mo ago anisocoria. Opth dx Adie's pupil. Neuro opth confirmed w/ prilorcarpine.
Went to Psych for anxiety. 10 mg Paxil upped to 30 & began Xanax XR 1 mg, took daily for 1 mo then decreased to 1/week. Still on 30 mg Paxil.
Also 4 mo ago began burning/aching left leg unrelated to movement. Migrates b/t low back / butt to ankle/foot. intensity varies but almost always there
3 mo ago began w/ floaters in Adie's eye. Still there.
1.5 mo ago went to neuro. Exam normal. MRI normal except sinusitus.
1 mo ago: leg pain localized to low left back. MRI lumbar showed osteoarthritis L3 / L4 & bulging discs L4 / L5. Since MRI pain returned to leg.
1 mo ago: began myoclonus & fasciculations. Mostly myoclonus - single jerk moves limb/part of body. Only @ rest. No tripping, dropping things. Causes legs/feet to move, butt, arms, low back (causes me to 'twist' my back), abdomen, neck (causes head turn slightly), fingers, eyebrow, chin, lower lip, eyelids & even rectum / sphincter & pubic area. Have brief fasciculations: 1-20 twitches then gone. All over as well.
Neuro follow-up exam normal. Sched EMG to see if discs causing nerve damage & investigate poss of ALS
1) Is ALS a possibility?
2) Does ALS cause myoclonus? Read about assoc. w/ fasciculations but confused abt distinction b/t myoclonus & fasciculations as pertain to ALS
3) Read that ALS fasciculations would be localized / not widespread, but also read contrary. Can you shed some light?
2 Responses
292356 tn?1205033382
MEDICAL PROFESSIONAL
292356 tn?1205033382
MEDICAL PROFESSIONAL
Dear Idela,

Thank you for submitting your question.
I will answer your concerns to the best of my abilities, but please be informed that I am unable to offer a diagnosis based on your history and list of symptoms.
I am extremely limited in not having the opportunity to perform a full neurologic examination on you, nor am I able to review the pertinent imaging.
This is solely for educational purposes and should in no way be a substitute for a formal evaluation by a certified physician.

I will attempt to answer your questions in a systemized fashion.

To begin, although you may have already performed your own research on ALS please allow me to give you a brief educational segment.

ALS ( Amyotrophic lateral sclerosis), also known as Lou Gehrig’s Disease or Motor Neuron disease is a  progressive, fatal, neurodegenerative disease caused by the degeneration of motor neurons.  The motor neurons are the nerve cells in the central nervous system that control voluntary muscle movement.
The word amyotrophic means "without muscle nourishment," and refers to the loss of signals the nerves normally send to the muscles. Lateral means "to the side," and refers to the location of the damage in the spinal cord. Sclerosis means "hardened," and refers to the hardened nature of the spinal cord in advanced ALS.
Symptoms typically began between the 4th and 7th decades with a slight predisposition towards men than women (1.2:1.)
Symptoms include the followiong:
* muscle cramps
* weight loss and fatigue.
* limb weakness that often spreads to contiguous limbs and becomes more generalized over time.
* loss of hand dexterity and strength (difficulty with gripping the hands, holding or turning keys, opening bottle tops or buttoning clothes)
* Lower limb weakness: foot drop (most common), gait problems, leg weakness
* Speech difficulties, trouble swallowing (what we refer to as bulbar symptoms)
* Trouble breathing with shortness of breath
* Weight loss
* Cognitive changes (memory) loss
* Personality changes (laugh or cry excessively without clear reasons)
ALS typically spares the sensory system, bladder/bowel function and the eyes.

ALS is a very difficult to diagnosis to make.
On a routine basis, we as neurologists conduct an extensive work-up before the diagnosis is made – this includes a very thorough history (including an detailed family history), a mediculous neurologic examination of the entire body, neuroimaging of the entire neuroaxis (brain/spinal cord), an EMG and nerve conduction study, laboratory work and some times even a lumbar puncture.
The current diagnostic criteria set by WFN (World Federation of Neurology) requires BOTH clinical and diagnostic evidence for ALS and we adhere to these rules quite strictly.

Question #1: To begin with your first question – unfortunately, it is extremely difficult for me to tell you whether ALS is a possibility or not.
As you can tell, ALS can present with an array of symptoms and should be on the differential diagnosis list for any patient presenting with an array of complicated and vague symptoms. But this does not mean that you have ALS or that it is a strong possibility in your case.

All in all, you need further work-up, which seems to be under way.  I agree with the EMG and nerve conduction study ordered by your physician.  This will help delineate the cause of your symptoms tremendously.

Question #2: Myoclonus and Fasciculations
Myoclonus:
* Described as sudden, involuntary jerking of a muscle or group of muscles. Myoclonic twitches or jerks usually are caused by sudden muscle contractions, called positive myoclonus, or by muscle relaxation, called negative myoclonus. Myoclonic jerks may occur alone or in sequence, in a pattern or without pattern. They may occur infrequently or many times each minute. Myoclonus sometimes occurs in response to an external event or when a person attempts to make a movement. The twitching cannot be controlled by the person experiencing it.
* Myoclonus may develop in response to infection, head or spinal cord injury, stroke, brain tumors, kidney or liver failure, lipid storage disease, chemical or drug poisoning, or other disorders. Prolonged oxygen deprivation to the brain, called hypoxia, may result in posthypoxic myoclonus. Myoclonus can occur by itself, but most often it is one of several symptoms associated with a wide variety of nervous system disorders. For example, myoclonic jerking may develop in patients with multiple sclerosis, Parkinson's disease, Alzheimer's disease, or Creutzfeldt-Jakob disease. Myoclonic jerks commonly occur in persons with epilepsy, a disorder in which the electrical activity in the brain becomes disordered leading to seizures.

I am not aware of any literature linking myoclonus to ALS nor have I seen it in my clinic.

Fasciculations:
* Described as small, local, involuntary muscle contraction (twitching) visible under the skin arising from the spontaneous discharge of a bundle of skeletal muscle fibers.
* The intensity of these contractions is much les than in myoclonus.
* Conditions associated:
-ALS (rare)
-Toxins (organophosphate poisoning)
-Benzodiazepine withdrawal
-Dehydration, fatigue
-Benign fasciculation syndrome (most common)

Question #3: Fasciculations associated with ALS are usually diffuse and widespread, most prominent on the lateral arm muscles, the back and the thigh areas.  They however can also be focal and localized to one part of the body.  This varied greatly.

I hope this helps.
All in all, you need further diagnostic testing.
Please do not do what a lot of my patients tend to – which is to self-diagnose themselves after doing research on their own.
It is good to inquire about your health but do not torment yourself by diagnosing yourself with diseases – especially ALS.

You are doing all the right things, which is seeking help from a variety of sources and educating yourself about your symptoms.
Please continue to follow-up with your neurologist.

Best of luck,
JKL, MD
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