What is Spinal Muscular Atrophy?

March 16, 2018
Janelle Thomas MSN, RN
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Awareness is one of the most effective tools you have as a family caregiver. This tool gives you the ability to react to new challenges and demands within your senior care journey in an effective, personalized way that fits with you and your elderly loved ones’ care goals.

For some seniors who deal with inactivity due to physical, balance, cognitive, or other challenges, one risk they may face is spinal muscular atrophy. As their family caregiver, being aware of spinal muscular atrophy, commonly abbreviated as SMA, and its issues can help you to respond effectively.

Spinal muscular atrophy, or SMA, impacts approximately 4 people in every 100,000 throughout the United States. Unless you know someone with spinal muscular atrophy, it’s quite possible you’ve never heard of the disease – however, 1 in 50 people carry the disease, and 1 out of every 6,000 to 10,000 people develop it.

If you have a family member with SMA, learning more about the disease can help you be prepared for the future and ensure they receive the best possible care.

What is Spinal Muscular Atrophy?

SMA is a disease that affects the body’s ability to control muscle movements by attacking and destroying the lower motor neurons.

The condition is characterized by muscles that are shrinking due to extended inactivity, however, this condition does not occur in all people who are inactive. Instead, it is a genetic, progressive disease that directly impacts the motor neurons of the brain stem and spinal cord.

Taking a closer look at the disease’s name can be helpful in understanding it.

The majority of the nerve cells responsible for controlling muscles are found in the spinal cord, thus the word “spinal.”

The word “muscular” refers to the fact the disease affects the muscles.

The word “atrophy” describes how the muscles are affected. The muscles become smaller, or atrophy, because of inactivity.

Causes of Spinal Muscular Atrophy

SMA is a genetic disease caused by a defective SMN1 gene. The gene is responsible for creating a protein needed for healthy motor neurons. When there isn’t enough SMN protein, the lower motor neurons lose vitality and muscles grow weak and waste away. The trunk and upper arms and legs are most affected by the disease.

Types of Spinal Muscular Atrophy

There are four types of SMA. Spinal muscular atrophy is categorized using the age of onset, the severity of the symptoms, and the progression of the disease.

The four types of spinal muscular atrophy are:

Type I: Type I SMA is also called Werdnig-Hoffmann disease. This form appears at birth or shortly after. Most children affected with Type I SMA are unable to sit upright or hold their heads up. They also have developmental delays.

Type II: Type II SMA becomes apparent between 6 and 12 months of age. People with this type are able to sit upright but might need help to get into position. However, they cannot stand or walk without help.

Type III: Type III SMA is also called Kugelberg-Welander disease and develops between the ages of 2 and 17 years. Individuals with this type walk with an abnormal gait and have trouble running or climbing steps. They may suffer from frequent respiratory infections but generally live a normal lifespan.

Type IV: Type IV SMA occurs most frequently in adults between the thirties and fifties. While the symptoms of this form are less severe than those of the other forms, the challenges your aging parent might face if they experience this condition can be difficult and compromise their health and well-being.

Symptoms of SMA Type IV include:

  • Progressive limb weakness that usually begins in the muscle groups of the thighs and then the upper arms
  • Slow, but progressive muscle wasting
  • Decreased reflexes in the deep tendons
  • Very slow decrease in the ability to walk or move the lower limbs
  • Cramping or marked stiffness in the muscles
  • Twitching or spasms in the muscles
  • Marked weakness

Kennedy’s Disease: Aside from the main types, there are other forms of SMA. One of them is called Kennedy’s disease and occurs somewhere between the ages of 15 and 60 years. The disease is progressive and usually starts with weakened muscles in the face, tongue, and jaw. Over time, the muscles in the arms and legs also become weak and the person loses feeling in their hands and feet.

Diagnosis of Spinal Muscular Atrophy

Spinal muscular atrophy is a rare disease, meaning many medical professionals are not necessarily familiar with the condition. If your seniors are at risk of this disease, it is vital you seek out assistance from the right professionals.

Diagnosis is through blood testing to detect a specific gene, a muscle biopsy, or electromyography-electrical testing of the muscles.

Treatment of Spinal Muscular Atrophy

Generally, your treatment team will include a variety of professionals, including:

  • Occupational therapists
  • Neurologists
  • Physiotherapists
  • Dieticians
  • Exercise therapists

These professionals can work with your parent after diagnosis to create an approach that involves muscle stretching exercises, pain relief approaches, muscle stimulation, and activities that encourage ongoing muscular health.

The most important thing to keep in mind when it comes to caring for a senior coping with SMA is preventing further muscle loss and maintaining the health of the muscle that is still left.

While there is no cure for this disease, using these approaches can help to slow the progression of the disease and keep the body healthier and stronger for longer.

Tips for Caring for Someone Living with Spinal Muscular Atrophy

The care you give your parent can make a tremendous difference in their ability to cope with SMA and remain safe and healthy throughout their later years living with the condition.

Use these tips to help you care for an elder who is living with spinal muscular atrophy:

Provide physical support. Seniors living with SMA are likely to deal with mobility challenges as their muscles weaken. This puts them at greater risk of suffering falls and the serious complications and injuries that can occur as a result of these falls. Physical support from you or from an elder home care services provider can help your parent to maintain their activity level while staying safer.

Encourage physical therapy. Physical therapy can be extremely beneficial to a senior who is dealing with physical challenges associated with their SMA, such as spine curvature. Encourage your parent to participate in this therapy to help them to stay active more safely, avoid the muscle and tendon contractions that can occur, and reduce their pain and discomfort.

Pay attention to respiratory issues. Many adults with SMA struggle with respiratory muscle problems. They might have difficulty with breathing because of the weakening of the muscles, and may also struggle with swallowing. This puts them at risk of aspirating food and fluids while eating and drinking, which puts them at serious risk of choking. This aspiration also increases their risk of developing pneumonia, which can be extremely serious for elderly adults.

Contact Care Options for Kids for Spinal Muscular Atrophy Home Care Assistance

If you have been considering ways you would be able to enhance your parent’s quality of life and support an ongoing lifestyle of independence and fulfillment, now may be the ideal time for you to consider starting home care services for them.

A home care provider can be there with your aging parent on a fully customized schedule to ensure they get everything they need to remain happy, healthy, comfortable, and safe throughout their later years.

The highly personalized nature of these services enables the care provider to address your parent’s individual needs, challenges, and limitations in a way that is right for them by respecting their preferences, goals, and opinions.

This means they can handle their daily personal care tasks, support good lifestyle choices, keep them active and engaged, and even offer reminders to help them stay compliant with their medications and treatments so they can get the most benefit from them. They can also perform light housecleaning, cook meals, and do laundry, which may become difficult for your family member as muscles atrophy.

When you hire a home care provider through an agency, you can specify how often you would like the home care provider to visit the house. They can come daily or a few times per week. They can also come for just a few hours or for a full day. Home care providers can also be hired to stay overnight.

If you or an aging loved one are considering hiring home care services, contact the caring staff at Care Options for Kids today. (888) 592-5855