Myofibrillar myopathy is a muscular disorder characterized by wasting and weakness of the muscles. The disease occurs due to degeneration of protein fibers that are vital for muscle contraction. These protein fibers in the muscles are described as myofibrils. Skeletal muscles meaning muscles that are used for body movement are affected in this rare disease. But in some cases muscles of heart may also get affected.
Family history and mutation of genes is the underlying cause of myofibrillar myopathy. The affected individuals are usually in their mid adulthood. Patients with myofibrillar myopathy experience weakness in hands, arms, pelvic muscles and legs.
Patient may not be able to write or hold something due to weakness in the muscles of hands. There is no permanent cure. Treatment is aimed at ameliorating the symptoms so that the individual feels comfortable.
Causes Of Myofibrillar Myopathy
Myofibrillar myopathy is a rare muscular disorder. Usually the condition occurs in middle aged individuals. Men and women are equally affected with this condition. The cause of myofibrillar myopathy is gene mutation. Genes play many roles and one of them is to provide instruction for making protein that helps to form myofibril, the primary unit of muscles.
This protein provides strength to the muscle fibers which helps the muscles to contract and relax. However, genetic mutation disrupts proper formation and functioning of the protein within the muscle fibers. As a result muscle become weak and starts wasting.
The cause of gene mutation can be hereditary. However, it can also be spontaneous without any known hereditary history. Genes that are normally involved are BAG3 gene, DES, MYOT, LDB3 and many other genes.
Symptoms Of Myofibrillar Myopathy
The signs and symptoms of myofibrillar myopathy vary greatly even within the same family of affected people. Here the most noticeable symptoms:
- Majority of patients develop weakness in their muscles in their mid adulthood life.
- Weakness and wasting can develop in any skeletal muscle, but usually the most affected are muscles of arm, hand, calf, chest, and ankles.
- Due to weakness in hands patient may not able to hold any object in his hand. Person can also repeatedly fall while walking due to wasting and weakness in leg and calf muscles.
- Due to weakness in the back muscles the spine may get misshapen with a deviation sideways. The condition is called scoliosis.
- Patient may also complain of muscle pain and joint stiffness.
- The other muscles affected are those that help swallowing and speech. There may be associated change in voice tone and swallowing difficulty.
- Since the condition also involves heart muscles there may be symptoms of cardiac enlargement such as breathlessness while performing any mild or moderate physical task, rapid heartbeat etc.
- Patients with myofibrillar myopathy also experience numbness and tingling in various parts of body due to damage to the peripheral nerves.
- Rarely myofibrillar myopathy leads to early cataract.
How Do You Treat Myofibrillar Myopathy?
At present there is no curative treatment for individuals suffering from myofibrillar myopathy. Treatment is aimed at alleviating the symptoms; strengthen muscle power so that patient can live comfortable life.
Following treatment is generally given to the patient:
- Several types of braces may be useful for support and strength of muscles.
- Patient is also taught physical exercises that help to improve muscle movement.
- If there is pain efforts are made to alleviate pain with medications so that patient finds relief in his regular life.
- Individuals suffering from this disease also have cardiomyopathy or heart enlargement. Such patients may need pace makers. Heart transplantation may be considered if the condition is life threatening.
Myofibrillar myopathy is a progressive disease and muscle weakness worsens after certain period. But the progression may be varying from one patient to another. Generally with proper healthy lifestyle and care, patient lives into adulthood. Full life expectancy always depends on the condition of heart involvement.