Physiotherapy in Wilson's Disease: Difference between revisions

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Wilson's disease is an inherited condition in which copper is not excreted properly from the body. The excess copper can build up in the liver and/or brain causing liver damage and/or neurological problems. It can also collect in other parts of the body including the eyes and the kidneys. Copper begins to accumulate immediately after birth but the symptoms usually appear in the 2nd to 3rd decade. The first signs are hepatic (liver) in about 40% of cases, neurological (brain) in about 35% of cases and psychiatric, renal (kidney), haematological (blood), or endocrine (glands) in the remainder.


<br>'''<u>Neuropsychiatric symptoms-</u>'''


<br>About half the people with Wilson's disease have neurological or psychiatric symptoms. Most initially have mild cognitive deterioration and clumsiness, as well as changes in behavior. Specific neurological symptoms usually then follow, often in the form of parkinsonism with or without a typical hand tremor, masked facial expressions, slurred speech, ataxia or dystonia. Seizures and migraine appear to be more common in Wilson's disease. A characteristic tremor described as "wing-beating tremor" is encountered in many people with Wilson's; this is absent at rest but can be provoked by extending the arms. Cognition can also be affected in Wilson's disease. This comes in two, not mutually exclusive, categories: frontal lobe disorder (may present as impulsivity, impaired judgment, promiscuity, apathy and executive dysfunction with poor planning and decision making) and subcortical dementia (may present as slow thinking, memory loss and executive dysfunction, without signs of aphasia, apraxia or agnosia). It is suggested that these cognitive involvements are related and closely linked to psychiatric manifestations of the disease.
<div class="editorbox"> '''Original Editor '''- [[User:Raj Rindani|Raj Rindani]] '''Top Contributors''' - {{Special:Contributors/{{FULLPAGENAME}}}}</div>


<br>Psychiatric problems due to Wilson's disease may include behavioral changes, depression, anxiety and psychosis. Psychiatric symptoms are commonly seen in conjunction with neurological symptoms and are rarely manifested on their own. These symptoms are often poorly defined and can sometimes be attributed to other causes. Because of this, diagnosis of Wilson's disease is rarely made when only psychiatric symptoms are present.  
== Introduction ==
[[Wilson's Disease|Wilson's disease]] is a rare autosomal recessive disorder which causes excess copper build up in the body<ref>Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. [https://pubmed.ncbi.nlm.nih.gov/8298639/ The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene]. Nature genetics. 1993 Dec;5(4):327-37.</ref>. It mainly affects the brain, liver and cornea. It's incidence is 1 in 30,000 individuals, from ages 4 to 40 years<ref name=":0">Chaudhry HS, Anilkumar AC. Wilson Disease. [Updated 2021 Aug 11]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK441990/#</ref>.


<br><u>'''Physiotherapy-'''</u>
Symptoms in this disease are varied and depend on the degree of involvement of organs damaged due to copper accumulation. Earlier signs and symptoms seen are hepatic (involving liver) in ~40% of patients, neurological (involving brain) in ~40%–50% and psychiatric  in ~10% of patients<ref>Hedera P. [https://pubmed.ncbi.nlm.nih.gov/30797706/ Update on the clinical management of Wilson’s disease]. The application of clinical genetics. 2017;10:9.</ref>. The symptoms of  interest from physiotherapy treatment point of view are the neurological and to some extent psychological. The neurological manifestations chiefly include [https://www.physio-pedia.com/index.php?title=Essential_Tremor&redirect=no%3Futm_source%3Dphysiopedia&utm_medium=search&utm_campaign=ongoing_internal tremor], dystonia, parkinsonism that can be seen clinically along with [https://www.physio-pedia.com/Dysarthria?utm_source=physiopedia&utm_medium=search&utm_campaign=ongoing_internal dysarthria], gait and posture disturbances, drooling and [https://www.physio-pedia.com/Dysphagia?utm_source=physiopedia&utm_medium=search&utm_campaign=ongoing_internal dysphagia]<ref>Członkowska A, Litwin T, Dusek P, Ferenci P, Lutsenko S, Medici V, Rybakowski JK, Weiss KH, Schilsky ML. [https://pubmed.ncbi.nlm.nih.gov/30190489/ Wilson disease]. Nature reviews Disease primers. 2018 Sep 6;4(1):1-20.</ref>. 


<br>Physiotherapy is beneficial for patients with the neurologic form of the disease. The copper chelating treatment may take up to six months to start working, and physical therapy can assist in coping with ataxia, dystonia, and tremors, as well as preventing the development of contractures that can result from dystonia.<br>Maintenance therapy is more important than rehab.
== Physiotherapy management ==
The symptoms of this disease, especially neurological, affect the activities of daily living of the patient to a great extent. Physiotherapy is of value in improving the quality of life of an individual affected with Wilson's Disease.  


Relaxation technique is more important to maintain the position and posture.To reduce hyper-activeness use sedative otherwise due to hyper activeness rigidity will increase and result will be dislocation/fracture/injury of some joints/bones or muscle/ligament injury. To avoid torticollis maintain the position of neck and do the proper exercise and stretching.
The cornerstone of management of Wilson's disease is copper-chelating therapy with penicillamine and trientine. It requires a time period of six months to take effect<ref name=":0" />. Until the medication starts working physiotherapy can help manage neurological symptoms of [https://www.physio-pedia.com/Ataxia?utm_source=physiopedia&utm_medium=search&utm_campaign=ongoing_internal ataxia], dystonia and tremors. It also plays a role in prevention of contractures due to dystonia<ref name=":0" />.  


Use cock-up splint to maintain hand position and use L-splint or night splint to maintain ankle position, proper positioning of spine to avoid scoliosis and kyphosis. Maintain sitting position 2-3 hours twice daily.<br>
Physiotherapy interventions can be explained further by discussing recent case reports on Wilson's disease involving rehabilitation,   
 
=== '''Case 1: Physical Therapy in Wilson's Disease : Case Report (2016)'''<ref>Maiarú, Mariano & Garcete, Alejandra & Drault, Maria & Mendelevich, Alejandro & Modica, Mariela & Peralta, Federico. (2016). [https://www.researchgate.net/publication/316141431_Physical_Therapy_in_Wilson's_Disease_Case_Report Physical Therapy in Wilson’s Disease: Case Report.] Physical Medicine and Rehabilitation - International. 3. 1. </ref>===
This case report is about a 32yr. old male diagnosed with Wilson's disease 16 years ago.
 
==== Assessment ====
He was initially assessed using some specific tests as an outcome measures for understanding the effect of physiotherapy treatment protocol. The tests are as follows :
{| class="wikitable"
|+
!
!'''Test'''
!'''Parameter Assessed'''
|-
|1.
|[https://www.physio-pedia.com/Timed_Up_and_Go_Test_(TUG)?utm_source=physiopedia&utm_medium=search&utm_campaign=ongoing_internal Timed Up and Go (TUG)]
|Fall Risk
|-
|2.
|[[10 Metre Walk Test|10 Meter Walk Test (10MWT)]]
|Gait Speed
|-
|3.
|Clinical Test for Sensory Interaction on Balance
(mCTSIB)
|Static Balance
|-
|4.
|[[Functional Gait Assessment|Functional Gait Assessment (FGA)]]
|Dynamic Balance
|-
|5.
|Activities-specific Balance and Confidence Scale
(ABC Scale)
|Confidence in activities requiring balance
|}
 
==== Exercise Intervention ====
'''Frequency''' :
 
* Supervised physiotherapy was given 2 times per week for 2 months and 20 days.
* Home exercise was also continued 3 times per week.
 
The exercise protocol can be explained as follows :
 
# <u>To improve Static Balance</u>,
 
{| class="wikitable"
|+
!
!'''Initial starting Exercise'''
!'''Exercise Progression'''
|-
|'''Type'''
| colspan="2" |Exercises in standing position
|-
|'''Intensity'''
|Standing exercises done on -
 
* On stable surface with feet together
|1. Standing Position -
 
* Semi tandem
* Tandem
* One foot
 
2. Somatosensory weighting -                       
 
* eyes open
* eyes closed
|-
|'''Time'''
| colspan="2" |4 series of 1 min. duration exercises with 3 min. breaks
|}2. <u>To improve Dynamic Balance</u>,
{| class="wikitable"
|+[[File:Treadmill_walk.jpg|alt=|center|thumb|267x267px|Treadmill Walking]]
!
!'''Initial starting Exercise'''
!'''Exercise Progression'''
|-
|'''Type'''
| colspan="2" |Walking on treadmill
|-
|'''Intensity'''
|
* Focus on achieving stability in  walking
* Use upper extremity to balance
* eyes open
|
* Horizontal & vertical head turns         
* Eyes Close
* Cognitive task added                       
|-
|'''Time'''
| colspan="2" |3 min. with break of 5 min. ; 1 hr. per session
|}
3.<u>To improve Functional Capacity</u>,
{| class="wikitable"
|+
!
!'''Initial starting Exercise'''
!        '''Exercise Progression'''         
|-
|'''Type'''
| colspan="2" |Focus on daily activities which were difficult
to perform
|-
|'''Intensity'''
|Start with simpler exercises
|Dosage according to patient's tolerance   
|-
|'''Time'''
| colspan="2" |Rest period of 3-5 min. ; Total time 30 min.
|}
 
==== Conclusion ====
There was improvement in patient's confidence regarding balance during various activities. The assessment tests were repeated again after the physiotherapy protocol &some showed considerable difference in pre & post values. They are as follows :
{| class="wikitable"
|+
!
!'''Test'''
!'''Patient Improvement'''
'''( measured in difference of pre & post test values)'''         
|-
|1.
|TUG
|3.5 seconds
|-
|2.
|10 MWT
 
* Usual speed
* Maximum Speed
|
* 37 %
* 53 %
|-
|3.
|FGA
|7 Points
|-
|4.
|ABC Scale
|11.2 %
|}
 
=== Case 2: Neuromuscular Electrical Stimulation therapy for dysphagia caused by Wilson's Disease(2012)<ref>Lee SY, Yang HE, Yang HS, Lee SH, Jeung HW, Park YO. [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3400883/ Neuromuscular electrical stimulation therapy for dysphagia caused by Wilson's disease.] Annals of rehabilitation medicine. 2012 Jun;36(3):409.</ref>===
This is a case report of a 33 yrs. old male with difficulty in swallowing since last 7 years. His dysphagia has worsened over last 2-3 months. He has been diagnosed with Wilson's disease 13 years ago.
 
==== Assessment ====
{| class="wikitable"
|+
!
!'''Test'''
!'''Parameter Assessed'''
|-
|1.
|Medical Research Council (MRC)
|Limb muscle strength testing
|-
|2.
|Video fluoroscopic swallowing study(VFSS)
|Evaluation of dysphagia according to  
the functional dysphagia scale
|}
 
==== Intervention ====
{| class="wikitable"
|+
!
!Type
!Frequency
!Intensity
!Time
|-
|1.
|Neuromuscular Electrical Nerve stimulation
 
(NMES)
 
Positioning of Electric pads :
 
* Channel 1 - Horizontally just above hyoid bone
* Channel 2 -Vertically under annular cartilage
|5 times a week for 2 weeks
Total 10 sessions
|Current Intensity dosage:
 
* Progress from 0mA to more than 7mA
* Increase stimulus gradually in increments of 0.5mA
|1 hr. per day
|}
 
==== Conclusion ====
The patient had oral & pharyngeal phase abnormalities in swallowing as assessed during VFSS pre-treatment. Post 10 sessions improvement was observed in the pharyngeal phase of swallowing with marked reduction (<10%) in vallecular residue as compared to pre-NMES VFSS.  
 
== References ==
<references />
[[Category:Conditions]]

Latest revision as of 11:40, 26 April 2023


Original Editor - Raj Rindani Top Contributors - Sonal Joshi, Kim Jackson, Elaine Lonnemann and Raj Rindani

Introduction[edit | edit source]

Wilson's disease is a rare autosomal recessive disorder which causes excess copper build up in the body[1]. It mainly affects the brain, liver and cornea. It's incidence is 1 in 30,000 individuals, from ages 4 to 40 years[2].

Symptoms in this disease are varied and depend on the degree of involvement of organs damaged due to copper accumulation. Earlier signs and symptoms seen are hepatic (involving liver) in ~40% of patients, neurological (involving brain) in ~40%–50% and psychiatric in ~10% of patients[3]. The symptoms of interest from physiotherapy treatment point of view are the neurological and to some extent psychological. The neurological manifestations chiefly include tremor, dystonia, parkinsonism that can be seen clinically along with dysarthria, gait and posture disturbances, drooling and dysphagia[4].

Physiotherapy management[edit | edit source]

The symptoms of this disease, especially neurological, affect the activities of daily living of the patient to a great extent. Physiotherapy is of value in improving the quality of life of an individual affected with Wilson's Disease.

The cornerstone of management of Wilson's disease is copper-chelating therapy with penicillamine and trientine. It requires a time period of six months to take effect[2]. Until the medication starts working physiotherapy can help manage neurological symptoms of ataxia, dystonia and tremors. It also plays a role in prevention of contractures due to dystonia[2].

Physiotherapy interventions can be explained further by discussing recent case reports on Wilson's disease involving rehabilitation,

Case 1: Physical Therapy in Wilson's Disease : Case Report (2016)[5][edit | edit source]

This case report is about a 32yr. old male diagnosed with Wilson's disease 16 years ago.

Assessment[edit | edit source]

He was initially assessed using some specific tests as an outcome measures for understanding the effect of physiotherapy treatment protocol. The tests are as follows :

Test Parameter Assessed
1. Timed Up and Go (TUG) Fall Risk
2. 10 Meter Walk Test (10MWT) Gait Speed
3. Clinical Test for Sensory Interaction on Balance

(mCTSIB)

Static Balance
4. Functional Gait Assessment (FGA) Dynamic Balance
5. Activities-specific Balance and Confidence Scale

(ABC Scale)

Confidence in activities requiring balance

Exercise Intervention[edit | edit source]

Frequency :

  • Supervised physiotherapy was given 2 times per week for 2 months and 20 days.
  • Home exercise was also continued 3 times per week.

The exercise protocol can be explained as follows :

  1. To improve Static Balance,
Initial starting Exercise Exercise Progression
Type Exercises in standing position
Intensity Standing exercises done on -
  • On stable surface with feet together
 1. Standing Position -
  • Semi tandem
  • Tandem
  • One foot

2. Somatosensory weighting -

  • eyes open
  • eyes closed
Time 4 series of 1 min. duration exercises with 3 min. breaks

2. To improve Dynamic Balance,

Treadmill Walking
Initial starting Exercise Exercise Progression
Type Walking on treadmill
Intensity
  • Focus on achieving stability in walking
  • Use upper extremity to balance
  • eyes open
  • Horizontal & vertical head turns
  • Eyes Close
  • Cognitive task added
Time 3 min. with break of 5 min. ; 1 hr. per session

3.To improve Functional Capacity,

Initial starting Exercise Exercise Progression
Type Focus on daily activities which were difficult

to perform

Intensity Start with simpler exercises Dosage according to patient's tolerance
Time Rest period of 3-5 min. ; Total time 30 min.

Conclusion[edit | edit source]

There was improvement in patient's confidence regarding balance during various activities. The assessment tests were repeated again after the physiotherapy protocol &some showed considerable difference in pre & post values. They are as follows :

Test Patient Improvement

( measured in difference of pre & post test values)

1. TUG 3.5 seconds
2. 10 MWT
  • Usual speed
  • Maximum Speed
  • 37 %
  • 53 %
3. FGA 7 Points
4. ABC Scale 11.2 %

Case 2: Neuromuscular Electrical Stimulation therapy for dysphagia caused by Wilson's Disease(2012)[6][edit | edit source]

This is a case report of a 33 yrs. old male with difficulty in swallowing since last 7 years. His dysphagia has worsened over last 2-3 months. He has been diagnosed with Wilson's disease 13 years ago.

Assessment[edit | edit source]

Test Parameter Assessed
1. Medical Research Council (MRC) Limb muscle strength testing
2. Video fluoroscopic swallowing study(VFSS) Evaluation of dysphagia according to

the functional dysphagia scale

Intervention[edit | edit source]

Type Frequency Intensity Time
1. Neuromuscular Electrical Nerve stimulation

(NMES)

Positioning of Electric pads :

  • Channel 1 - Horizontally just above hyoid bone
  • Channel 2 -Vertically under annular cartilage
 5 times a week for 2 weeks

Total 10 sessions

Current Intensity dosage:
  • Progress from 0mA to more than 7mA
  • Increase stimulus gradually in increments of 0.5mA
 1 hr. per day

Conclusion[edit | edit source]

The patient had oral & pharyngeal phase abnormalities in swallowing as assessed during VFSS pre-treatment. Post 10 sessions improvement was observed in the pharyngeal phase of swallowing with marked reduction (<10%) in vallecular residue as compared to pre-NMES VFSS.

References[edit | edit source]

  1. ↑ Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene. Nature genetics. 1993 Dec;5(4):327-37.
  2. ↑ 2.0 2.1 2.2 Chaudhry HS, Anilkumar AC. Wilson Disease. [Updated 2021 Aug 11]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK441990/#
  3. ↑ Hedera P. Update on the clinical management of Wilson’s disease. The application of clinical genetics. 2017;10:9.
  4. ↑ Członkowska A, Litwin T, Dusek P, Ferenci P, Lutsenko S, Medici V, Rybakowski JK, Weiss KH, Schilsky ML. Wilson disease. Nature reviews Disease primers. 2018 Sep 6;4(1):1-20.
  5. ↑ Maiarú, Mariano & Garcete, Alejandra & Drault, Maria & Mendelevich, Alejandro & Modica, Mariela & Peralta, Federico. (2016). Physical Therapy in Wilson’s Disease: Case Report. Physical Medicine and Rehabilitation - International. 3. 1.
  6. ↑ Lee SY, Yang HE, Yang HS, Lee SH, Jeung HW, Park YO. Neuromuscular electrical stimulation therapy for dysphagia caused by Wilson's disease. Annals of rehabilitation medicine. 2012 Jun;36(3):409.
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