Introduction

While physical exercise cannot reverse the impact of a neurological disorder, it has been shown to improve motor symptoms, instil confidence in patients and enable them to perform everyday tasks more effectively.

Machado-Joseph Disease (MJD), also referred to as Spinocerebellar ataxia type 3 (SCA3), is a rare inherited neurodegenerative disorder characterised by cerebellum degeneration, an area of the brain responsible for motor learning, balance and coordination.¹ Common symptoms of MJD include progressive clumsiness, abnormal gait, impaired eye movements, bulging eyes, and difficulty with speech and swallowing.² This form of ataxia has a worldwide prevalence of 1-5/100,000, with increased cases reported in Brazil, Portugal, and China.^3,4

MJD can be categorised into 3 main types:

• Type 1: is an early onset condition that occurs between the ages of 10 and 30 years old. Symptoms are severe and can quickly worsen, with the distinctive symptoms being dystonia and muscle rigidity
• Type 2: is the most common type and develops between the ages of 20 and 50. Symptoms progress gradually over time. Prominent symptoms at this stage include ataxia, which is an involuntary muscle contraction
• Type 3: is a late-onset condition that develops between the ages of 40 and 70 years old. The degenerative effects of symptoms get worse more slowly than both type 1 and type 2. This type is characterised by muscle twitching, weakness, atrophy (wasting away), and ataxia. People can also develop a loss of sensation, muscle cramps, and twitches²

Although medications, including riluzole and levodopa, can be prescribed to people with motor dysfunction, such as in Parkinson’s disease, they are not specific to MJD. Hence, there is still ongoing research on therapeutic interventions.⁵ However, several physical therapies have been used to improve the surveillance of symptoms and increase patients’ self-esteem and mood.^1,6

Recent studies have demonstrated short-term improvements in coordination and gait through repeated motor learning programmes of varying intensities.⁷ Furthermore, the long-term impact of regular, intensive training is still being investigated with promising results in minimising the coordination deficits seen in patients with MJD.⁸

This article will highlight some of the different training programmes and rehabilitation options suitable for those affected by MJD to help control symptoms, slow the progression of decline, and maintain quality of life.

Rehabilitation strategies

Physical therapy

Balance training

Balance training can be defined as enhancing postural control when upright, while stabilising the body's centre of mass relative to its base of support.^9,10 It aims to reduce the risk of falls and improve balance in everyday life, which is particularly significant in those with ataxia and type 3 MJD.¹¹

Both static and dynamic balance exercises can be implemented to improve stability. For example, the square-stepping exercise (SSE) involves patients performing a sequence of different steps on a thin mat (100 x 25) with 40 squares, enhancing spatial awareness and coordination.¹² Another example includes performing dual-task activities, where patients can walk with motor or cognitive activities, such as walking in a straight line carrying a tray while talking. 

Exercises focused on multitasking should be prioritised to reflect the practical needs of performing activities of daily living (ADLs). Working alongside a physiotherapist to perform both static and dynamic exercises can help alleviate fear of falling and instil confidence by improving stability.¹³ 

Strength training

Strength training focuses on improving the functional movements of the upper and lower limbs by engaging the shoulder, knee, and hip flexors and extensors through varied movements.¹² For example, exercises including upper ball throwing and catching weighted sandbags to improve upper-limb and lower-limb resistance through compound movements.

Additionally, these exercises are effective in improving hand-eye coordination. Strength training interventions were performed twice a week for 60 minutes over 8 weeks, and showed improvement in strength. Such exercises can be performed individually or in a group, further enhancing the mood, motivation, and psycho-physical status of the patient.¹⁴

Immersive reality and gait training

Ataxic gait is characterised by disordered coordination between the head, trunk, and legs, resulting in abnormal foot placement, stumbling, and a higher risk of falling while walking.¹⁵

Immersive virtual reality has been adapted to allow functional ability for performing everyday tasks, such as walking and manipulating objects.¹⁶ Virtual reality involves using real-life stimulation through displayed images, movements, and virtual objects to immerse the user in the stimulated environment.¹⁷ This method is crucial because studies suggest that following cerebral damage, a stimulus-response association is more effective in improving learning when responding to cues, as opposed to a learning mechanism.¹⁸

Types of video games that can be played in virtual reality to benefit patients with ataxia include coordination-based sports such as ping-pong or badminton.¹⁹ This form of rehabilitation can target optimal control by practising consistent patterns of coordination and should be changed over time to more advanced and unpredictable conditions.²⁰ 

Aquatic therapy

Various exercises have been adapted into an aquatic environment to be effective in musculoskeletal disorders and neurorehabilitation. Aquatic therapy (AT) is currently a form of management for people experiencing balance dysfunction and gait disturbance associated with a stroke, Parkinsonism, and multiple sclerosis.²¹ The unique nature of AT, such as buoyancy, hydrostatic pressure, and resistance, can help facilitate movement and provide a range of exercise benefits.²² 

AT is typically performed in a heated environment, which further relieves muscle weakness.²³ AT strategies are similar to conventional exercise, such as upright gait, flexion and extension of upper and lower limbs and treadmill training.²¹ 

Occupational therapy

Adaptive devices 

Adaptive devices can be focal in ensuring patient safety and avoiding injury whilst maintaining a sense of independence.⁶ Occupational therapies include wheelchair support, crutches, walkers, and home modifications to make daily living easier.²⁴ 

The emerging use of robotic-assisted gait training (RAGT) has demonstrated success in improving neurorehabilitation; however, research is ongoing, and the long-term impact remains unclear. 

In addition to improving neuromuscular recovery, robotic approaches to rehabilitation provide quantitative data on training and recovery, making it easier to track progress and adapt other PTs accordingly.²⁵

FAQs

How do I know which training programme is best suited for me?

Discussing the common symptoms you're experiencing and their impact on your daily life with your primary healthcare provider allows them to create a personalised plan that benefits you. Factors that will be considered include age, type of MJD, and the interests of patients. Setting SMART goals (Specific, Measurable, Attainable, Relevant, Time-bound) can also help track progress of any exercise programme you participate in and act as a motivational incentive to promote engagement with PT and rehabilitation further.

Summary

MJD can have debilitating impacts on those affected, from performing ADLs to losing a sense of independence. A multidisciplinary approach is essential for supporting those with MJD, including physical therapists, occupational therapists, and family. Physical exercise and rehabilitation are crucial for motivating patients to regain a sense of control over their symptoms and help maintain function. People with varying symptom severity can perform a wide range of exercises mentioned in this article, which can be easily tailored to their individual needs and personal goals. For instance, the frequency of training, intensity, and type of physical therapy can be dependent on the age of the patient and their varying symptoms. Patients with more severe symptoms can combine exercises and use of assistive devices to improve mobility, resistance and muscular strength.