Physiotherapy in Wilson's Disease

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Wilson's Disease & its Symptoms

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

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. 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.

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. 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. Physiotherapy can help manage neurological symptoms of ataxia, dystonia and tremors. It also plays a role in prevention of contractures due to dystonia.

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

Case Study 1

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 :

	Test	Parameter Assessed
1.	Timed Up and Go (TUG)	Fall Risk
2.	10 Minute 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

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,

	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

There was improvement in patient's confidence regarding balance during various activities. The assessment tests were repeated again after the physiotherapy protocol &showed considerable difference in pre & post values. Please refer to the case report for its further statistical details.

Case Study 2

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