Myotonia

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lehughes
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Myotonia

Post by lehughes »

Laurie,

I saw a 6yr Fs, Chihuahua mix that the internal medicine specialist diagnosed with myotonia. She has muscle hypertrophy of most of her muscles. Her gait is stiff and stilted. I had seen her in march and she had reduced extension of the shoulders and decreased flexion of the elbow. She also had decreased flexion of the hips. Now flexion of the elbows is worse. I can flex both carpi, but as soon as let go, it goes back to hyperextension. The stifles are extended as well as the hips and hocks. I can flex the stifles, the left more easily than the right. Even if I pinch the toes of the right pelvic limb she does not withdraw her leg and I feel this is due to the increased tone in the muscles.
Do you have any recommendations as to how to treat her? Or what I can do to help her? The internal medicine specialist and myself have encouraged the owners to take her to a neurologist, but they want to try rehab first. Any suggestions would be helpful.

Thank you,
LW

lehughes
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Re: Myotonia

Post by lehughes »

Hi L!

Well this one made me do a little research. My first questions was, “Why does this dog have this?” So I googled to find that it could very well be congenital (if it’s anything like the human forms). In which case, I’m not sure what a neuro consult would do… other than rule out something weird like Atlanto-Axial subluxation, or Syringomyelia, or something totally outside of that realm. However, you can put those into your differentials and see if you think she looks neurological to you…

So, I’ll take you down the same rabbit hole. Googling ‘canine myotonia’.

1. https://www.embracepetinsurance.com/health/myotonia
This rare disease, more aptly termed “myotonia congenita,” affects the muscles by allowing the continuous contraction of muscle fibers. A painful, hereditary condition, myotonia is the result of chloride channel malformations in dogs, though a small number of cats have also been found to suffer it. The inability of the chloride channels (which allow for proper conduction of the complex electrical impulses from the nerves to the muscles) to do their work means constant contraction of voluntary muscles (like that of most of the skeletal system).
In some cases, myotonia has been found to be “acquired,” that is, dogs with certain conditions may also suffer chloride channel disturbances by virtue of their primary disease. Cushings disease has been associated with myotonia in dogs, though only rarely.
So… any thoughts on other conditions that might have caused a chloride channel disturbance based on what you’ve seen of this dog or other testing done
Procainamide, a drug used to treat heart arrhythmias, is an option that has been found to reduce the symptoms in many affected dogs.

2. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4535507/
A research paper on myotonia associated with hyperadrenocorticism - in 2 dogs.
Findings suggest that myotonia persists despite treatment, but this condition is not associated with a poor prognosis for survival.
This report documents long-term trilostane treatment for myotonia associated with HAC in 2 dogs

3. https://embarkvet.com/products/dog-heal ... congenita/
What is Myotonia Congenita?
This condition is characterized by prolonged muscle contraction and stiffness that usually resolves with normal exercise, though physical therapy can be beneficial.
Affected dogs present as puppies for prolonged muscle contractions, especially after resting. This leads to visibly appreciable muscle rigidity and a stiff, hopping gait. The tongue muscle is often affected as well, causing affected dogs to have a characteristic protruding tongue. Affected dogs may also have difficulty swallowing or may regurgitate their food after eating due to involuntary muscle contractions.

4. http://www.vetstreet.com/care/myotonia
In some cases, myotonia has been found to be acquired; that is, dogs with certain conditions may also experience chloride channel disturbances by virtue of their primary disease. Cushing’s disease has been associated with myotonia in dogs, and some infectious or immune-mediated conditions may also result in similar signs.
So… seeing that the dog is 6, has blood work been done? I don’t know what else… Lyme?

5. https://www.vin.com/apputil/content/def ... id=4252835
Case study presentation of a 5-mo old Mini Schnauzer.
The animal has been treated for three months with phenytoin, with an improvement in its life condition.


So, from the veterinary side of my research, I would think that perhaps an appropriate medication could be explored! (That’s up to you! I cannot comment further other than reading that meds are used for this.)

Now, the second part of my research was pertaining to' physical therapy and myotonia’.

1. https://www.myotonic.org/sites/default/ ... 12_mdf.pdf
People with myotonia report pain. Pain can be controlled with heat and massage (and/or meds as well).
Fatigue is common - so in people, we discuss energy conservation strategies and/or adaptive devices. For a dog, this might mean a wheelchair to engage in longer walks (?).
Exercise - hydrotherapy, strengthening, aerobic, flexibility, recreational activities.

2. https://www.physio.co.uk/what-we-treat/ ... trophy.php
Physiotherapy for adults with myotonic dystrophy
Physiotherapy treatment for adults with myotonic dystrophy will involve developing a structured rehabilitation programme between you and your physiotherapist at Physio.co.uk which will focus on:
• Strengthening exercises especially for the lower limb to improve mobility and gait pattern. The dorsiflexor muscles are also targeted to help lift the foot up when walking.
• Exercises to improve balance
• Breathing to reduce the risk of chest infections
• Hydrotherapy to stretch tight muscles and strengthen muscles
• Advice on orthoses to reduce the impact of foot drop and improve stability when walking.
• Advice on mobility aids such as walking sticks and wheelchairs
Physiotherapy treatment will largely depend on the severity of your symptoms.

3. https://www.ingentaconnect.com/content/ ... 8/art00005
However, exercise therapy might not have benefit (or harm)

4. https://www.researchgate.net/publicatio ... s_myotonia
Introduction. Thomsen's Myotonia is the rarest of congenital myotonias. It affects one in 50,000 individuals and shows a pattern of autosomal dominant inheritance. It is characterized by sustained muscle contraction that occurs after every voluntary contraction. Muscle relaxation delay to happen or even does not occur. Objective. Check the influence of physical therapy on balance and functionality an individual with Thomsen's Myotonia. Method. It was performed a case report, which was evaluated the balance and functionality before and after physiotherapy treatment. The instruments used were: the Berg Balance Scale (BBS), Timed Up and Go (TUG) and Functional Independence Measure (FIM). The treatment consisted of gait training, balance with rhythmic stabilization, segmentation of functional activities with the assistance of external auditory cues and visual references. Results. There was an increase in score of BBS and a decrease in time execution of the TUG after treatment. MIF showed no difference in results before and after treatment. Conclusion. A series of exercises performed during the treatment was effective for improving balance and gait performance of patient.

There isn’t tons that ‘validate’ physical therapy / rehab for this… so I’m going back to google searching versus pubmed.

5. https://www.mda.org/sites/default/files ... _flyer.pdf
Physical therapy enables children with myotonic dystrophy to make maximum use of healthy muscle function, helping them maintain independence and prevent the onset of muscle contractures. This is a list of accommodations students may need during the school day:
• Stretching
• Range-of-motion exercises
• Safety training (on stairs and playground)
• Hallway safety
• Accommodating activities of daily living (ADLs) to changing physical needs (toileting, lunch time/cafeteria safety, etc.)
• Adapted/modified physical education (see next section)

Physical Education (Adapted):
Remaining physically active is recommended for anyone with myotonic dystrophy. It is also imperative that students remain included in the general education classroom for physical education (PE). Modifications for most activities can be done by consulting with a physical therapist, with the goal of the student’s PE curriculum being recreation, rather than competition or increased strength and endurance. In some circumstances, physicians may require that a student be excused from PE activities.


All in all, it appears to me, that you work on function, balance, flexibility, strengthening, maybe massage… and overall work on quality of life type of issues.

I can’t say that I have any first hand experience, but this is where I would go with it! I hope this helps!

Cheers,

Laurie
LAURIE EDGE-HUGHES

lehughes
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Re: Myotonia

Post by lehughes »

Thank you, this is helpful.

The internal medicine specialist did full bloodwork, which was normal. Even the CK was normal, which he thought would be high. When he talked with the neurologist about referral, he had recommended testing for Cushings disease. The dog looks like she could have Cushings diseases I also recommended testing for it. The owners have decided not to test at this time. They say that even if she has it, the medication is too expensive. (I find it hard to believe that the cost for the medication would cost more than it dose to come see me on a weekly basis, but don't know).
The dog has gotten a lot worse since I saw her in march. She knuckles her pelvic limbs periodically because she because she can't lift up her leg to correct it. I lasered all of her muscles last week when I saw her. I have had them doing massage and PROM in hope that she does not lose any more flexion of the joints. I also had them doing some heat therapy.
I will see about trying procainamide on her.

I am seeing her again today, If I remember, I will get a video of her walking and standing and send it to you.

Thanks,
L

lehughes
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Posts: 1664
Joined: Mon Jun 22, 2015 3:25 pm

Re: Myotonia

Post by lehughes »

Ridiculous that they would say no to testing for Cushing’s based on potential medication costs… which MIGHT be the easiest thing to do for this case!
Maybe plan the seed again… who knows!

Best of luck!

L
LAURIE EDGE-HUGHES

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