Physiotherapy in Wilson's Disease: Difference between revisions

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[[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>.   
[[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>.   


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 ones include chiefly tremor, dystonia, parkinsonism that can be seen clinically along with dysarthria, gait and posture disturbances, drooling and 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>.   
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 tremor, dystonia, parkinsonism that can be seen clinically along with dysarthria, gait and posture disturbances, drooling and 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>.   


== Physiotherapy management ==
== 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 patient's quality of life. The aim of treatment is to preserve optimum functional level of patient rather than produce drastic improvements or reversal of symptoms. Thus in case of Wilson's disease, maintenance therapy is more important.   
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 aim of treatment is to preserve optimum functional level of patient rather than produce drastic improvements or reversal of symptoms. In case of Wilson's disease, maintenance therapy is more important.   


The mainstay management of Wilson's disease is copper-chelating therapy. It requires a time period of six months to take effect<ref name=":0" />. In the mean time physiotherapy can address symptoms of ataxia, dystonia and tremors.     
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" />. Physiotherapy can help manage neurological symptoms of ataxia, dystonia and tremors. It also plays a role in prevention of contractures due to dystonia<ref name=":0" />.     


Physiotherapy Interventions can be divided as :   
Physiotherapy interventions can be explained further by discussing recent case studies on Wilson's disease involving rehabilitation,   
{| class="wikitable"
|+
!
!Intervention
!Rationale
|-
|1.
|stretching exercises
|To relieve stiffness of muscle
|-
|2.
|relaxation  techniques focusing on breath training
|Reduction of anxiety
|-
|3.
|light strengthening exercise
|
|-
|4.
|weight bearing exercises
|To reduce effects of osteoarthritis
|}


=== Case Studies ===
==== Case Study 1<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> ====
The Physiotherapy treatment aspect can be explained further by discussing what is found in recent case studies on Wilson's disease.         


<br><u>'''Physiotherapy-'''</u>
==== Case Study 2<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> ====
 
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.  
 
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>


== References ==
== References ==
<references />
<references />

Revision as of 06:00, 19 November 2021

This article is currently under review and may not be up to date. Please come back soon to see the finished work! (14/11/2021)

Wilson's Disease & its Symptoms[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 aim of treatment is to preserve optimum functional level of patient rather than produce drastic improvements or reversal of symptoms. In case of Wilson's disease, maintenance therapy is more important.

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]. 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 studies on Wilson's disease involving rehabilitation,

Case Study 1[5][edit | edit source]

Case Study 2[6][edit | edit source]

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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