Muscular Dystrophy: What Is It?

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Muscular Dystrophy: What Is It?

Muscular dystrophy, also known as MD, is a genetic condition that can occur at any point in life, including childhood or much later.

There are more than 30 forms of muscular dystrophy, categorized based on age of onset, the muscles affected, and the severity of symptoms.

In general, this disease is characterized by the progression ressive difficulty and eventual loss of spontaneous movement in the muscles of the legs and arms, leading to an inevitable inability to move. Other muscles, such as the heart, can also be affected, resulting in cardiac or respiratory complications. In older individuals, vision problems like cataracts can occur.

What Are the Two Main Types of Muscular Dystrophy?

  • Congenital Muscular Dystrophies (CMD)

    • These forms begin within the first six months of life and include about ten different types, varying in severity. Examples include CMD with primary merosin deficiency, Ullrich CMD, rigid spine syndrome, and Walker-Warburg syndrome.

  • Muscular Dystrophies

    • These forms typically start later in childhood or in adulthood and include various subtypes:

      • Duchenne muscular dystrophy

      • Becker muscular dystrophy

      • Emery-Dreifuss muscular dystrophy (with several forms)

      • Facioscapulohumeral muscular dystrophy (Landouzy-Dejerine myopathy)

      • Limb-girdle muscular dystrophies (primarily affecting muscles around the shoulders and hips)

      • Myotonic dystrophies (types I and II), including Steinert's dystrophy, characterized by myotonia, a condition where muscles have difficulty relaxing after contracting, leading to trouble opening the hands after making a fist.

      • Oculopharyngeal muscular dystrophy

One of the most well-known forms is Duchenne muscular dystrophy, which primarily affects boys, with about 1 in 3,500 boys being affected.

What Causes Muscular Dystrophy?

Muscular dystrophies are rare diseases, with some estimates suggesting that approximately 1 in 3,500 people are affected. However, they can occur in anyone and at any age. These diseases are genetic, meaning they result from a mutation or anomaly in a gene necessary for the proper functioning and development of muscles. When this gene is mutated, muscles can no longer contract normally, lose their strength, and degenerate.

Muscular dystrophy is typically inherited from parents, although exceptionally, it can occur spontaneously without the defective gene being present in the family. Generally, muscular dystrophy is inherited in a recessive manner, meaning both parents carry the abnormal gene but do not manifest the disease themselves. It's only when a child inherits the abnormal gene from both parents that they develop the condition.

Daily Consequences of Muscular Dystrophy:

Muscular degeneration gradually causes the body and joints to deform over time. People with the condition often suffer from significant scoliosis. There is frequently shortening of muscles and tendons, resulting in joint deformities, such as feet and hands turning inward and downward, and knees or elbows becoming misshapen. Additionally, the disease often accompanies anxiety or depression, requiring proper treatment. The progressive loss of autonomy is another significant consequence.

Diagnosing Muscular Dystrophy:

Muscular dystrophy can occur at any age and is characterized by the progressive weakness of the body's muscles. These muscles gradually atrophy, losing both their size and strength. The affected individual eventually loses the ability to move and become immobile. Diagnosis is solely performed by a doctor, preferably in a hospital setting. Here are the different steps of diagnosis:

Managing Muscular Dystrophy in Nursing Homes:

As there is currently no cure for muscular dystrophy, it is possible to alleviate symptoms and improve the quality of life for patients through various methods. When it occurs in adults, muscular dystrophy can, within a few years or even a decade, lead to complete physical dependence. Despite all possible therapies to alleviate discomfort and joint pain caused by stiffening muscles, the fact remains that nothing can regenerate a muscle once the disease has caused the degeneration of the controlling neurons. This often leads to an increasing reliance on orthoses to support weakening joints, the use of leg braces, ankle and foot braces, as well as walkers to prevent falls. Over the years, a wheelchair becomes necessary in most cases.

Therefore, an elderly person with muscular dystrophy constantly requires assistance and support in all daily life activities, including eating. While steroid treatment can sometimes lead to weight gain, making movement even more difficult, individuals with muscular dystrophy typically lose weight. This is because the muscles responsible for chewing and swallowing are affected, and the weakening of arm muscles often prevents them from eating independently. Close monitoring is required, as malnutrition can be a significant concern.

Muscular Dystrophy: Specialized and Medicalized Care in Nursing Homes:

In a nursing home specializing in the care of dependent elderly individuals, the staff is trained to meet the needs of such patients. They ensure safety both day and night and assist the person with eating by providing suitable food choices to address swallowing and chewing problems caused by stiff or weakened muscles. In some cases, a gastric feeding tube may be necessary to prevent malnutrition.

The medicalized structure of nursing homes, equipped with transfer boards, ramps, medical beds, and respiratory devices (for when breathing muscles become compromised), allows for comprehensive and secure patient care. Given that this disease requires substantial care, technical assistance, and often the use of specialized equipment, it is evident that a facility adapted to the needs of dependent elderly individuals, such as a medicalized nursing home, must meet these requirements.

Occupational therapists and physiotherapists are available to improve motor skills and alleviate joint pain, cramps, and grip problems. Regular massage sessions can relax tense and contracted muscles.

Speech therapists help address speech problems as the ability to speak gradually diminishes. Communication boards and digital communication devices may be provided to help patients maintain contact with the outside world.

All of this, admittedly, represents a significant cost for patients and their families, but social assistance programs exist to help. This is the price that an elderly person suffering from muscular dystrophy may expect to pay for aging with dignity.

Can Muscular Dystrophy Be Relieved or Cured?

Currently, there is no effective treatment for this disease characterized by extreme muscle weakness, progressive inability to move, and joint deformities. However, ongoing medical research is advancing, and regular physiotherapy and orthopedic rehabilitation sessions can provide relief in daily life.

Physiotherapy and Orthopedic Rehabilitation in Nursing Homes:

Regular physiotherapy sessions are essential to provide some comfort to patients, help them maintain flexibility in their movements, and preserve their mobility as much as possible. These exercises and massages are typically administered in a rehabilitation center or nursing home. They help maintain the person's abilities and reduce muscle and joint pain. As the disease progresses, the use of orthopedic devices (orthoses) may be necessary to reduce deformities. In some cases, a corset may be worn to prevent scoliosis from worsening, or ankle and wrist orthoses may provide rigid support to muscles. Difficulty in walking and moving is often initially alleviated by using a cane or walker, but a wheelchair becomes necessary in most cases over time.

Surgery to Correct Joint Deformities:

In some cases, such as scoliosis, surgery on limbs can improve the quality of life for patients, rectifying painful joint deformities and allowing them to continue walking. Some medications can help alleviate symptoms such as muscle pain, cramps, or myotonia. These may include phenytoin, mexiletine, baclofen, dantrolene, and carbamazepine. Given that cardiac problems are common in muscular dystrophy, appropriate monitoring and care are essential. Additionally, some patients with severe cardiac issues may require the implantation of a pacemaker.

Respiratory muscle involvement is common, especially in forms of muscular dystrophy like Duchenne or Steinert's disease. This can lead to breathing difficulties, varying degrees of shortness of breath, fatigue upon waking, and a weak cough. These difficulties may require nighttime respiratory assistance. In severe cases, a tracheostomy (a surgical opening in the trachea) may be necessary to facilitate ventilation.

Vigilance is crucial for elderly individuals with muscular dystrophy. The disease not only affects daily life activities and mobility but also poses cardiac and respiratory challenges, necessitating constant assistance, including support with eating. Weight loss can be a concern due to difficulties with chewing and swallowing, and close monitoring is essential.

In conclusion, muscular dystrophy is a challenging condition with no current cure. However, therapies and support can significantly improve the quality of life for those affected. Ongoing research may lead to better treatment options in the future.

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