Physiotherapy in Wilson's Disease: Difference between revisions

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Wilson's disease also known as hepatolenticular degeneration is a rare autosomal recessive disorder due to excess copper can build up in the liver and/or brain causing liver damage and/or neurological problems.   
== Wilson's Disease & its Symptoms ==
[[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 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.  
Symptoms 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 are 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>.


Read more about the Pathophysiology of Wilson's Disease [http://www.physio-pedia.com/Wilson's_Disease here]
may severely affect the activities of daily living 


<br>'''<u>Neuropsychiatric symptoms-</u>'''  
== Physiotherapy management ==
The symptoms of this disease, especially neurological will affect the activities of daily living of the patient to a great extent. Physiotherapy is of value in improving the affected individual's quality of life by treating these symptoms. The aim is to preserve optimum functional level of patient rather than rehabilitate or produce drastic improvements in symptoms. Thus in case of Wilson's disease, maintenance therapy is more important. 


<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.
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 help cope with ataxia, dystonia and tremors.  
 
<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.  


<br><u>'''Physiotherapy-'''</u>  
<br><u>'''Physiotherapy-'''</u>  


<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.
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.  
 
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>
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>

Revision as of 21:51, 17 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 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 ones are chiefly tremor, dystonia, parkinsonism that can be seen clinically along with dysarthria, gait and posture disturbances, drooling and dysphagia[4].

may severely affect the activities of daily living

Physiotherapy management[edit | edit source]

The symptoms of this disease, especially neurological will affect the activities of daily living of the patient to a great extent. Physiotherapy is of value in improving the affected individual's quality of life by treating these symptoms. The aim is to preserve optimum functional level of patient rather than rehabilitate or produce drastic improvements in symptoms. Thus 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[2]. In the mean time physiotherapy can help cope with ataxia, dystonia and tremors.


Physiotherapy-

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.

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 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.
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