Physiotherapy in Wilson's Disease
Introduction
Wilson's disease is a rare autosomal recessive genetic disorder which causes excess copper build up in the body. [1] It mainly affects the brain, liver and cornea. [2] Its incidence is between 1 in 30,000 to one in 50,000 individuals from ages 4 to 40 years. [3][4]
Symptoms in this disease are varied and follow the degree of involvement of organs damaged due to copper accumulation. [2] According to reports, approximately 40% of patients may start by having liver issues, 40%–50% neurological problems and around 10% of patients psychiatric symptoms. [5] [6]
For more detailed information on Wilson's disease and its various manifestations and management, visit the relevant page.
Physiotherapy Management
Although the cornerstone of treatment in Wilson's disease is traditionally pharmacological therapy, [7] physiotherapy can help manage symptoms, prevent possible side effects from treatment and complications arising from the disease and improve functionality and quality of life for the patient. [8] Some clinical guidelines have focused on the role of physiotherapy in managing neurological manifestations. [2] Nevertheless, the Wilson Disease Association acknowledges the role of physiotherapy beyong neurological management. In sum, physiotherapy may include interventions such as: [8]
- Pain management
- Education and training on mobility, gait, posture and positioning
- Therapeutic exercises for muscle function, coordination, balance and endurance
- Joint and soft tissue mobilisations for better range of motion
Below you can find reported physiotherapy interventions from case reports on Wilson's disease involving rehabilitation.
Case 1: Physiotherapy in Wilson's Disease: Case Report (2016)
This case report is about a 32yr. old male diagnosed with Wilson's disease 16 years ago.[9]
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 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
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:
- To improve Static Balance
| Initial starting Exercise | Exercise Progression | |
|---|---|---|
| Type | Exercises in standing position | |
| Intensity | Standing exercises done on -
|
1. Standing Position -
2. Somatosensory weighting -
|
| 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 |
|
|
| 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 |
| Duration | Rest period of 3-5 min. ; Total time 30 min. | |
Outcomes
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
|
|
| 3. | FGA | 7 Points |
| 4. | ABC Scale | 11.2 % |
Case 2: Neuromuscular Electrical Stimulation Therapy for Dysphagia caused by Wilson's Disease (2012)
This is a case report of a 33 yrs. old male with difficulty in swallowing since last 7 years. [10] His dysphagia has worsened over last 2-3 months. He has been diagnosed with Wilson's disease 13 years ago.
Assessment
| 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
| Type | Frequency | Intensity | Duration | |
|---|---|---|---|---|
| 1. | Neuromuscular Electrical Nerve stimulation
(NMES) Positioning of Electric pads:
|
5 times a week for 2 weeks
Total 10 sessions |
Current Intensity dosage:
|
1 hr. per day |
Outcomes
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.
Case 3: Resistance Training in Wilson Disease: A Case Study (2023)
This case report presents the case of a 15 year old boy with Wilson's disease and neurological symptoms who received daily physiotherapy exercises with resistance training 3 times per week (70 minutes/ for 8 weeks) [11]
Assessment
| Test | Parameter Assessed | ||
|---|---|---|---|
| 1. | DASH (Persian version) | Activities of Daily Living | |
| 2. | Manual Muscle Testing (MMT) | Upper Limb Muscle Strength |
Intervention
| Type | Intensity Progression | Target Duration | Frequency | |
|---|---|---|---|---|
| 1. | Warm-up / Stretching | Low to vigorous | 15 min | 3 times per week for 8 weeks |
| 2. | Exercises | Assisted to Active to Resisted | 40 min | 3 times per week for 8 weeks |
| 3. | Cool down / Stretching & Breathing | Not reported | 15 min | 3 times per week for 8 weeks |
Outcomes
Decrease in DASH from 67.24 to 46.55 (4 weeks) and 36.20 (8 weeks). Increase of MMT scores on both sides.
References
- ↑ 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. Nat Genet. 1993 Dec;5(4):327-37.
- ↑ 2.0 2.1 2.2 European Association for the Study of the Liver. EASL-ERN Clinical Practice Guidelines on Wilson's disease. J Hepatol. 2025 Feb 22:S0168-8278(24)02706-5.
- ↑ 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/# [accessed 25/7/25]
- ↑ Sandahl TD, Laursen TL, Munk DE, Vilstrup H, Weiss KH, Ott P. The Prevalence of Wilson's Disease: An Update. Hepatology. 2020 Feb;71(2):722-32.
- ↑ Hedera P. Update on the clinical management of Wilson's disease. Appl Clin Genet. 2017 Jan 13;10:9-19.
- ↑ Członkowska A, Litwin T, Dusek P, Ferenci P, Lutsenko S, Medici V, Rybakowski JK, Weiss KH, Schilsky ML. Wilson disease. Nat Rev Dis Primers. 2018 Sep 6;4(1):21.
- ↑ Alkhouri N, Gonzalez-Peralta RP, Medici V. Wilson disease: a summary of the updated AASLD Practice Guidance. Hepatol Commun. 2023 May 15;7(6):e0150.
- ↑ 8.0 8.1 Wilson Disease Association. Other therapies. Available from:https://wilsondisease.org/medical-professionals/other-therapies/ [accessed 26/7/2025]
- ↑ Maiarú M, Garcete A, Drault M, Mendelevich A, Modica M, Peralta F. Physical Therapy in Wilson’s Disease: Case Report. Phys Med Rehabil Int. 2016; 3:1.
- ↑ Lee SY, Yang HE, Yang HS, Lee SH, Jeung HW, Park YO. Neuromuscular electrical stimulation therapy for dysphagia caused by Wilson's disease. Ann Rehabil Med. 2012 Jun;36(3):409-13.
- ↑ Chakeri Z, Talebian S. Resistance Training in Wilson Disease: A Case Study. J Modern Rehabil. 2023; 17(2):212-8.