Talk given during the 1st Rett Clinic Family Symposium Rocky Mountain Rett Association

1. Movement Disorders in the
Rett clinic population
Rett Clinic Family Symposium
October 1, 2016
Anne Stratton, MD
Assistant professor, Dept Physical Medicine and
Rehabilitation, University of Colorado
Children’s Hospital Colorado
Multidisciplinary Rett Clinic

2. Disclosures
• I have no relevant financial interests with any potential
commercial entities related to this talk.

4. The challenges of movement…
• Megan never walked as a baby, but she did pull up in
her bed. Shortly after she accomplished that, the
regression started and she never walked. She also
never crawled. She gets around on the floor by rolling
and scooting on her back. She does love to be on her
feet and I have assumed she is too old to learn to walk.
But there is a spark inside me motivating me to
continue trying to get her to walk. When she stands,
she doesn’t seem to understand how to pick up her
feet to take steps most of the time. Then at times she
has actually taken more than one or two steps with
support.
~ unknown Rett parent contributor
The Rett Syndrome Handbook, 2nd ed 2007, Kathy Hunter, editor.

5. Outline
1. Types of movement problems
2. Definitions
3. Natural history of movement disorder development in our
clinic populations
4. Complications of movement disorders
5. Goals of treatment
6. Treatment options
7. Summary

6. Problems with movement in our population
• Stereotyped hand movements
• Apraxia
• Choreoathetosis
• Myoclonus
• Ataxia
• Parkinsonism
• Hypotonia
• Spasticity
• Dystonia
• Rigidity

7. Disorders of movement
• Stereotypic hand movements: wringing, mouthing,
clenching, tapping. A motor programming and/ or
signaling problem that strongly targets the hand/ upper
extremity pathway regions of the brain.
• Motor apraxia: a programing problem. The signals for
the desired/ intended actions or movements from the
brain don’t get routed to the end muscles to complete the
action correctly.
• Choreoathetosis: excessive signal issue. Involuntary jerky
and writhing movements that child can’t control. Over
activation of the wrong muscles at the wrong time.

8. Disorders of movement
• Myoclonus: aberrant signals. myoclonic “jerks.”
Sudden spasms that cause limb or whole body
movement
• Ataxia: a systems feedback problem. Problems
interpreting or understanding where your body is in
space and in relation to the ground when you make a
movement.
• Parkinsonism: a “signaling” problem. Bradykinesia
(slowed and diminished movements) and tremors due
to poor signal transmission

9. Disorders of movement and muscle tone
• Hypotonia: Low muscle tone.
Muscles are underactive at baseline.
“Floppy”
• Spasticity: High muscle tone. Muscles
are resistant to quick stretch and
respond by firing abnormally “Stiff”

10. Disorders of movement and muscle tone
• Dystonia: High muscle tone. Antagonistic
or opposite muscle pairs are active
simultaneously, pulling body parts into
abnormal twisted postures. “Stuck”
• Rigidity: High muscle tone. Muscles are
so over active that they resist all
movement in all directions and the body
part seems “Frozen” or “Locked”

11. Further characterization of movement disorders
• Hyperkinetic: excessive
movements
• Dystonia
• Myoclonus
• Choreoathetosis
• Hypokinetic: decreased
movements
• Parkinsonism
• Bradykinesia
• Rigidity

12. Progression over a child’s lifespan
• Rett (MECP2), CDKL5, FOXG1, and all Rett like
disorders overlap primarily because of the
characteristic movement disorders
• Wide spectrum/ variation of severity
• Wide spectrum age of onset
• No set rules, only trends

14. Trends in movement disorder onset
• Hypotonia
• Hand stereotypies
• Spasticity/ dystonia
• Progressive dystonia
• Rigidity/ Parkinsonism
• Advanced parkinsonism
• Tendency to transition from hyperkinetic movements
to hypokinetic movements with age
• FitzGerald P, Jankovic J, Percy A. Rett Syndrome and Associated
Movement Disorders. Movement Disorders. 1990; Vol 5 (3): 195-202.

15. Complications of Movement disorders
• Function
• Discomfort
• Positioning
• Care/ hygiene
• Contracture development

16. Goals of treating movement disorders
1. Improve function
2. Improve comfort
3. Improve ease of care

17. Treatment options
• Non-pharmacologic
• Therapy
• Stretching
• Bracing/ splinting
• Pharmacologic
• Focal injections
• Systemic medications
• Other

19. Non-pharmacologic options
• Stretching: lengthens the muscle
passively, temporarily reduces spasticity.
Mainstay of home programs. Requires
dedication.
• Therapy: functional movements provide
natural stretch and reduces spasticity
and dystonia. Focus on function and
comfort.
• Bracing/ Splinting: positions a limb to
provide prolonged stretch or inhibition
of dystonic posturing

20. Pharmacologic options: Focal injections
• Target the main problem muscles
• Shouldn’t have systemic side effects
• Temporary
• Botulinum toxin:
• Injected directly into muscle belly
• Blocks release of Ach (acetylcholine)
from the nerve, thus diminishing the
signal for the muscle to fire
• Nerve regenerates ability to release Ach
in ~3-4 months

21. Pharmacologic options: Focal injections
• Phenol blocks
• Injection directly at the motor nerve
• “Melts” the nerve endings so they can’t communicate as
well with the muscle
• Done under sedation
• Only certain muscles (biceps, hamstrings, and hip
adductors) due to nerve anatomy
• Also temporary since the nerve endings regenerate (3-6
months)

23. Pharmacologic interventions:
Systemic medications
• Baclofen
• Trihexyphenadyl (Artane)
• Diazepam (Valium)
• Clonazepam
• Carbidopa/ levodopa (Sinemet)

24. Systemic Medications: Baclofen
• Treats spasticity and dystonia
• Mimics neurotransmitter in spinal cord that sends
“relax” signals (GABA)
• Can be sedating- especially at higher doses

25. Systemic Medications: Trihexaphenadyl
• Parkinson drug
• Treats dystonia and rigidity
• Anticholinergic (blocks acetylcholine action)
• Can cause dry mouth (may be helpful in drooling)
• Can be sedating

26. Systemic Medications:
Diazepam and Clonazepam
• Benzodiazepines
• Treats spasticity, dystonia and rigidity
• Enhance the effect of the “relax” signal
neurotransmitter GABA (at it’s A type receptor)
• Can be very sedating

27. Systemic medications:
Carbidopa/ Levodopa
• Parkinson drug
• Treats bradykinesia, rigidity
• Mimics neurotransmitter dopamine in the brain
• Combination of 2 medications:
• Carbidopa
• Levodopa
• Levodopa
• active med in the brain
• Has intolerable GI side effects by itself
• Carbidopa
• helps regulate the metabolism of levodopa
• protects against nausea and vomiting side effects

28. Other options
• Baclofen pump
• Surgically implanted under thin
layer of muscle in abdomen
• Catheter tubing tunneled under
skin from pump to spine
• Tubing inserted into CSF space
around spinal cord
• Sterile liquid baclofen dripped
into CSF at spinal cord
• Refilled in office at least every
6 months

29. ?

30. Treatment options
• Frequently a combination of therapy is required
• Each child is unique and responds differently to each
intervention
• Treatments may change over time
• Re-evaluate goals for treatment over time
• Work with your team to be creative

32. Summary
• Rett syndrome and Rett like disorders have similar
problems with movement
• Hyperkinetic and hypokinetic movement disorders
• Problems with movement
• Problems with muscle tone
• Pharmacologic treatment options
• Non-pharmacologic treatments
• Combine therapies as child needs
• Get creative with your team based on your goals

33. References and resources
• Chapleau C, Lane J, Larimore J, et al. Recent progress in Rett syndrome and
MeCP2 dysfunction: assessment of potential treatment options. Future
Neurol. 2013; 8(1):1-9.
• Fitzgerald OM, Jankovic J, Percy AK. Rett syndrome and associated
movement disorders. Mov Disord. 1990; 5 (3):195-202
• Hymphreys P, Barrowman N. The incidence and evolution of parkinsonian
rigidity in Rett syndrome: a pilot study. Can J Neurol Sci. 2016; 00:1-7.
• Larsson G, Engerstrom I. Gross motor ability in Rett syndrome- the power
of expectation, motivation and planning. Brain and Devel. 2001; 23: S77-
S81.
• Nomura Y. Neurophysiology of Rett syndrome. Brain and Devel. 2001; 23:
S50-S57.
• Percy A. Rett syndrome: recent research progress. J of Child Neurol. 2008;
23 (5): 543-549.
• Rocky Mountain Rett Association website: http://rmrett.org/
• The Rett Syndrome Handbook, 2nd ed 2007, Kathy Hunter, editor

34. Thank you!
Rocky Mountain Rett Association: http://rmrett.org/