Wilson’s disease is a rare autosomal recessive disorder that causes excess copper accumulation in the body . Mainly involves the brain, liver and cornea. It occurs in 1 in 30,000 people between the ages of 4 and 40 .
Symptoms of the disease vary, depending on the degree of involvement of organs damaged by copper buildup. Early signs and symptoms are hepatic (involving the liver) in about 40% of patients, neurologic (involving the brain) in about 40%–50% of patients, and psychiatric in about 10% of patients . This From a physical therapy perspective, the symptoms of interest are neurological and to some extent psychological. Neurologic manifestations consist primarily of clinically visible tremor-dystonic parkinsonism with dysarthria, disturbances in gait and posture, drooling, and Difficulty swallowing .
The symptoms of the disease, especially the neurological ones, largely interfere with the patient’s activities of daily living. Physiotherapy is of great value in improving the quality of life of patients with Wilson’s disease.
The cornerstone of Wilson’s disease treatment is copper chelation therapy with penicillamine and trientine. It takes six months to become effective . Physical therapy can help control neurologic symptoms of ataxia, dystonia, and tremors until medications start to work. it Also plays a role in the prevention of contractures caused by dystonia .
Physiotherapy interventions can be further explained by discussing recent case reports of Wilson’s disease involving rehabilitation
Case 1: Physiotherapy for Wilson disease: a case report (2016)
This case report is about 32 years old. Elderly male diagnosed with Wilson’s disease 16 years ago.
He was initially assessed using some specific tests as outcome measures to understand the effects of the physical therapy treatment program. The test is as follows:
Test Parameters Assessed 1. Timed Start (TUG) Fall Risk 2. 10 Meter Walk Test (10MWT) Gait Speed 3. Clinical Test of Balance Sensory Interaction (mCTSIB) Static Balance 4. Functional Gait Assessment (FGA) Dynamic Balance 5 .Activity-specific balance and Confidence Scale (ABC Scale) for confidence in the activity need balance
- 2 supervised physical therapy sessions per week for 2 months and 20 days.
- Home workouts also continued 3 times a week.
The exercise protocol can be explained as follows:
- To improve Static Balance,
INITIAL START EXERCISE EXERCISE PROGRESSION TYPE STANDING POSITION EXERCISE INTENSITY STANDING EXERCISE DONE ON STABLE SURFACE – Feet together 1. Standing position – half tandem TandemOne foot2. Somatosensory weighting – open eyes and close eyes Time4 series for 1 minute. Practice for 3 minutes. rest
2. To improve Dynamic Balance,
Treadmill Walking Initial Start Exercise Exercise Progression Types Walking on a Treadmill Intensity Focus on Gaining Stability Using Upper Body Balance Eyes Open Horizontal and Vertical Head Turns Eyes Closed Cognitive Task Add 3 minutes to Time. Rest for 5 minutes. ; 1 hour. every lesson
3.To improve Functional Capacity,
Initial Start Exercises Exercise Progression Types Focus on hard-to-do daily activities Intensity Start with easy exercises Dose 3-5 minutes rest as patient tolerates. ;Total time 30 minutes
Patients have improved confidence in balance during various activities. The assessment tests were repeated again after the physical therapy regimen, and some showed large differences in before and after values. They are as follows:
TestPatient Improvement (difference of test value before and after measurement)1.TUG3.5 seconds2.10 MWTUsual speedMaximum Speed37 %53 %3.FGA7 Points4.ABC Scale11.2 %
Case 2: Neuromuscular Electrical Stimulation for Dysphagia in Wilson’s Disease (2012) 
This is a case report of a 33-year-old. Elderly man with dysphagia for 7 years. His dysphagia has worsened over the past 2-3 months. He was diagnosed with Wilson’s disease 13 years ago.
Evaluation of Test Parameters 1. Medical Research Council (MRC) Extremity Muscle Strength Test 2. Video Fluoroscopic Swallowing Study (VFSS) Assessment of dysphagia according to the Functional Dysphagia Scale
TypeFrequencyIntensityTime1. Positioning of Neuromuscular Electrical Nerve stimulation (NMES) pads: Channel 1 – horizontally above the hyoid bone Channel 2 – vertically below the cricoid cartilage 5 times per week for 2 weeks total of 10 current intensity doses: from 0mA to more 7mA Stimulation was gradually increased in increments of 0.5mA for 1 hour. every day
As assessed during VFSS preconditioning, this patient had abnormalities in the oropharyngeal phase of swallowing. Post-10 improvements were observed in the pharyngeal phase of swallowing, with significantly less valley residues (<10%) compared to pre-NMES VFSS.
- 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.
- 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/#
- Hedera P. Update on the clinical management of Wilson’s disease. The application of clinical genetics. 2017;10:9.
- 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.
- 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.
- 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.