Overview of Machado-Joseph Disease (MJD)

Machado-Joseph Disease (MJD) is a rare progressive genetic disorder that leads to impairment and loss of muscle control, balance, and coordination. These manifestations are caused by the loss of brain and nerve tissues and structures, which result in various impacts on the skeletal, muscular, and nervous systems of the body.¹

The development of MJD stems from a mutation in the ATXN3 gene, which is involved in building and maintaining various cells and tissues. The mutation disrupts these processes, resulting in the deterioration of the nerve cells and tissue within the brain, especially the cerebellum, brainstem, and spinal cord.²

Some of the signs and symptoms associated with MJD include:³

• Impaired balance and coordination
• Uncoordinated arm and hand movement
• Speech problems
• Loss of muscle structure
• Difficulties eating and swallowing

The Importance of Quality of Life

Many goals and objectives made throughout the course of navigating the healthcare field centre around meeting the physical, mental, emotional, and social needs of patients that contribute to their quality of life. This can range from being able to maintain their house to working, from being able to go out and be with their family and friends to being able to do things on their own.⁴ Health and wellness do not just occur in addressing the diseases, disorders, and conditions a person has from a healthcare and medical perspective. Significant portions of health and wellness, especially those most important to patients, are addressed when patients do not feel like patients who have these diseases, disorders, and conditions. 

Various Perspectives on Quality of Life

For those with MJD and other chronic conditions that leave patients unable to physically care for themselves on their own, their caregivers, from family to friends to other trusted parties, are there to do the things that they cannot. The responsibilities of caregivers and their own physical, mental, emotional, and social health also progress and change in similar ways.⁵ The perspectives both groups of people possess regarding quality of life in chronic condition management hold great significance in learning and understanding the impact of such conditions in their lives within and outside healthcare facilities and organisations. Continue reading to learn more about the quality of life with MJD from the perspectives of patients and caregivers, and how both groups of people can improve their quality of life.

Patient Perspectives on Quality of Life in MJD

Physical Challenges

Problems with physical movement, balance, and coordination are hallmark characteristics of MJD. These challenges progressively hinder the ability of those diagnosed with MJD to perform physical activities on their own, therefore also impacting their ability to take care of themselves.

Research and case studies also report high rates of unemployment among those with this diagnosis.¹⁰ Due to their inability to perform physical activities, which progresses and gets worse over time, their employment options can become limited. They may lose their employment in certain situations and have difficulties finding jobs and careers in which they can still perform their tasks, even with the obstacles MJD presents.

Mental and Emotional Health

The lack of data and information regarding MJD and how to treat and manage it can invoke thoughts and feelings of uncertainty in those with this diagnosis. This is especially true if both the patients and the caregivers are unsure about where in the family this disorder came from.⁶ These same feelings of fear and uncertainty can also arise as their condition progresses, with many worrying about how their physical capabilities can get worse over time as a result.⁸

Diagnosing MJD is challenging since impaired physical movement, balance, and coordination could also be signs of the presence of a variety of diseases, disorders, and conditions. It may take months before patients and their caregivers can find a healthcare professional who can help determine what their signs and symptoms could be the result of. As a result, it may take months or years for an official diagnosis to be made and to transition towards the appropriate treatment and management plans.⁶

Social Health and Daily Life Impact

Relationships with family and friends can be strained due to this disorder and what it entails, and may even end completely.^6,8 Their ability to perform physical activities becomes limited, leading to them missing out on important events and gatherings with the people that mean most to them.⁹ Patients may need to move to be closer either to their caregivers, family, and friends; the healthcare facilities and organisations from which they are receiving care; or both.

There have been reports of those with MJD having good and not-so-good days in terms of their ability to perform physical activities. ⁶This can impact their daily activities since they are not sure when they feel well enough to do certain activities and when they are unable to do anything of that nature.

Obstructive Sleep Apnea, cramps, fatigue, and involuntary muscle contractions constitute a group of reported manifestations in people with MJD that cause sleep disturbances and disorders.⁷ Diseases like MJD have adverse impacts on the amount and quality of sleep a person can get, which, in turn, also affects other aspects of their health. For example, poor sleep duration and quality can contribute to the development of autoimmune and cardiovascular disorders even in those without MJD and other similar disorders.⁷

Sources of Hope

Despite patients having these diseases, disorders, and conditions, especially MJD, it is critical for their overall health and wellness to engage in thoughts, feelings, and behaviours that allow them to address the fears and uncertainties they have. Some examples consist of:⁷

• Maintaining trusted interpersonal connections
• Building new connections with those living with the same disease
• Finding tools and resources that allow them to continue to do the activities they usually did prior to their diagnosis

The genetic aspect of MJD worries patients about their potential to pass on the genetic mutation to their children. While current research has not yet yielded a solution for slowing the progression of MJD nor one for curing it, patients and their caregivers are still hopeful that it is a possibility.⁶

Caregiver Perspectives on Quality of Life in MJD

Responsibilities

The progressive nature of MJD can result in the responsibilities of caregivers changing and even increasing over time as the physical, mental, emotional, and social challenges experienced by patients build up.⁶ Patients with MJD are at a high risk for self-injury, poor self-care, poor sleep quality and duration, and being unable to be present for appointments. The ability of patients with MJD to prevent self-injury and other similar adverse events from occurring and to take care of themselves without assistance can vary. As a result, the roles and responsibilities of their caregivers shift and change throughout the progression of this disease.

Mental and Emotional Health

Sadness, hopelessness, certainties and uncertainties about this diagnosis, and what the future holds for them and the people they care for are just a few examples of the thoughts and feelings that can negatively impact the mental and emotional health of caregivers.⁶ Even though treatment and management are largely focused on addressing the individual signs and symptoms, even these interventions are limited due to the rare nature of this disease and the lack of data and information available on alternatives. This can result in caregivers dedicating significant amounts of time and energy towards conducting their own research and learning and understanding what MJD is, what treatment and management interventions have been explored this far, and whether they have been effective in addressing the signs and symptoms of those diagnosed.

Social Health and Daily Life Impact

Since people with MJD are unable to perform certain physical activities, caregivers need to provide them with the support they need in order to do them. This can cover assisting them in doing physical recreational activities, accompanying them to rehabilitative programmes and appointments, and providing them with tools and equipment that can allow those receiving their care to perform these tasks independently.⁹ However, this cannot stop them from seeing the people they care for lose their ability to do things and be present for themselves and for those they care about. These realisations caregivers have and continue to observe in those they are caring for can have significant impacts on their own health and wellness, which can affect their own ability to provide adequate care for those with MJD.

Needs of Caregivers

The perspectives of caregivers regarding their quality of life as they help patients treat and manage these conditions must be considered due to their foundational roles and responsibilities in providing both medical and non-medical care. This way, they, alongside healthcare professionals and patients, can work together to address the thoughts, feelings, and behaviours caregivers exhibit from the time they notice the first signs and symptoms and throughout the disease process.⁹

It is critical for healthcare professionals to determine the level of distress and burnout caregivers of those with MJD have. Over time, these build up, affect their own health and wellness, and negatively impact their ability to provide a high level of quality care. There are various screening tools and resources available for determining caregiver distress and burnout. Multiple examples consist of interviews, questionnaires, and surveys with questions structured around their physical, mental, emotional, and social health and how they have changed over time. By doing so, all those involved in caring for the patient with MJD can contribute to appropriate care plans for addressing distress and burnout and minimising them as much as possible.¹¹

How to Improve Quality of Life

MJD is among the many diseases, disorders, and conditions that continue to remain rare long after their discovery.⁹ As a result, there is not a lot of data and information available on the disease, nor on how to treat and manage it beyond symptom-specific interventions. However, quality of life is regarded as a critical factor in treating and managing MJD.¹⁰ How they go about improving physical capabilities, managing responsibilities, and addressing feelings of fear and uncertainty regarding MJD will vary.

Two aspects of quality of life regarding MJD that can be shared between both patients and caregivers are keeping patients safe from injuries and treating and managing the signs and symptoms that come with it.¹²

Implementing safety protocols at home is essential in ensuring that patients with MJD do not injure themselves or their caregivers and continue to remain as independent as possible. If it is appropriate, assistive devices, such as wheelchairs and canes, may be needed to provide patients with the ability to be mobile and to provide them with additional support during physical activities.¹²

Physical therapy, occupational therapy, speech therapy, and other rehabilitation programmes, tools, and resources are some examples of the methods that can address these physical challenges and improve movement capabilities, balance, and coordination.^6,10 There are also medications that can help address health concerns such as sleep disorders, muscle cramping, pain, fatigue, dystonia, and spasticity.¹²

Summary

• Machado-Joseph Disease (MJD) is a rare disorder that causes progressive impairment and loss of muscle control, balance, and coordination
• The perspectives of patients and caregivers regarding quality of life in MJD management are important in learning and understanding its impact on their lives within and outside healthcare facilities and organisations
• The perspectives of patients regarding their quality of life while living with MJD can be categorised into physical challenges, mental and emotional health, social health and daily life impact, and sources of hope
• The perspectives of caregivers regarding their quality of life while caring for those with MJD can be categorised into responsibilities, mental and emotional health, social health and daily life impact, and needs of caregivers
• The first step in determining what methods would be appropriate in improving quality of life is learning and understanding what their individual needs are, how they change as the disease progresses, and how to adjust these aspects of their lives to accommodate those changes