Care Management and Quality of Life

Individuals with dysferlinopathy need to know how to take care of their physical and mental health as they navigate the progression of the disease. There has not been clinical research published specifically exploring the safety of exercising muscles lacking the dysferlin protein. Most of what has been shared by physical and occupational therapists is general LGMD-focused advice about managing health without expediting muscle damage. In this video, therapists give an overview of considerations that can be taken by individuals with LGMDs as they seek a healthy lifestyle.

Of the various limb-girdle muscular dystrophies, dysferlinopathy is particularly prone to misdiagnosis as polymyositis. It is estimated that around 25% of patients suffering from dysferlinopathy are misdiagnosed with polymyositis. Polymyositis is often treated with corticosteroids such as prednisone. Many people with dysferlinopathy have had extremely negative experiences with prednisone and there are publications about the detrimental effects of prednisone on people with dysferlinopathy. For more information on this go to the Misdiagnosis section on the Dysferlinopathy 101 page.

Standards of Care specifically for individuals with dysferlinopathy are being developed beginning in 2022. The European Neuromuscular Medical Centre has approved a clinical meeting where dysferlinopathy experts from Europe and the U.S. will begin the work of creating much needed disease specific standards of care for clinicians to follow.

Physical Therapy and Exercise

The Jain Foundation attended an LGMD virtual clinic day and the physical therapists on the panel shared that PT for LGMD patients needs to be a thoughtful, customized plan that the therapist constructs specifically for the individual. They shared that non-weight bearing exercise, such as swimming, is almost always preferred as part of an individual’s plan. Unfortunately, there isn’t much in the recent literature giving specific guidelines for therapists to follow. Overall, the message given at the LGMD virtual clinic day is that a combination of OT and PT along with a holistic approach to overall health (sleep, nutrition, respiratory and regular physicals) can be included to improve quality of living and help to maintain the best balance possible on an individual basis.

One pre-clinical study indicated that concentric and non-eccentric exercises such as swimming and cycling (in moderation) allow the benefits of exercise with less muscle damage than some other forms of exercise.  To read the full article click here.

Exercise can be used for three purposes:

• Keeping your joints and muscles flexible: Use stretches which will target specific joint contractures (tightening) or overall mobility. Often they can occur if the joints have more limited movement due to the weakness. It is key to stretch regularly (4-6 times/week) to feel its benefits.
• Keeping your muscles as strong as possible: Strengthening exercises will normally imply resisted movements that you will only be able to complete for a few repetitions (12 to 15). This can be done with the use of your own body weight; rubber bands or weights and it’s recommended to do it 2-3 times/week.
• Keeping your heart and lungs as healthy as possible: Aerobic exercise will involve activities done for a longer period of time (around 45 min) to a point that you have difficulties talking whilst doing them. Depending on your capacities this can involve walking, Nordic walking, running, dancing, arm cycling or driving your powered wheelchair. It is recommended to do aerobic exercise 3-4 times/week.

Ask a specialist physiotherapist for specific advice to help you to adjust your exercise plan to your current capacities.

Symptoms

Early Symptoms

Dysferlinopathy, also referred to as LGMD2B, LGMDR2, Miyoshi Myopathy 1, can affect both males and females and the symptoms generally do not appear until late teens to early adulthood or even later. In fact, some people with dysferlinopathy may have a competitively athletic childhood into the teenage years.  The first symptoms can vary but there are some activities that people with dysferlinopathy commonly lose the ability to do early on.

1. Standing on toes – not being able to stand on your toes is one of the most prominent early signs of dysferlinopathy.
2. Some people also report muscle pain and swelling in the legs, especially in the calves, but usually this pain does not last long.
3. People with dysferlinopathy often lose the ability to go from sitting on the ground to standing without using their arms to help them.
4. The legs are usually affected first, before the shoulders and arms. This can cause frequent falls, difficulty in running, walking uphill, climbing stairs and getting up from the floor.
5. Highly elevated CK (creatine kinase) levels can be the first sign of the disease.
6. Fatigue has been reported by people with dysferlinopathy.

Mid-Stage Symptoms

1. As the condition progresses, people can also have problems with walking and experience changes with their gait.
2. As the disease progresses it can start affecting the muscles in the upper body.  Shoulder and arm weakness can lead to difficulties doing overhead activities such as washing your hair, reaching high cupboards or lifting heavy objects onto high shelves.
3. Hand and forearm muscles can also become affected which can cause difficulties with intricate tasks. Facial and neck muscles are not usually involved and swallowing problems are unlikely.

Late-Stage Symptoms 

Dysferlinopathy is extremely variable in how quickly it progresses. In general, the rate of progression is slow compared to some of the other muscular dystrophies, and changes take place over many years. Having dysferlinopathy is not known to impact a person’s lifespan. However, as mobility levels change, there are secondary side effects that individuals with dysferlinopathy should receive support in managing.

1. Most individuals with dysferlinopathy need a wheelchair within 10-20 years of the onset of muscle weakness.
2. Everyday tasks like putting on a shirt, lifting a cup of coffee to take a drink, and rolling over in bed can become very difficult or nearly impossible and therefore necessitate help with such activities.
3. Individuals in later stage symptoms can make modifications to their homes in order to remain as independent as possible. Some modifications include toilet seat lifts, shower chairs; roll in showers, sinks that accommodate wheelchairs, doorway and washrooms with wheelchair clearance, ramps and accessible vehicles. Many individuals work with personal care assistants in getting ready for the day and with housework.