What is Myofibrillar Myopathy?
Myofibrillar myopathy is a muscle disease in which muscle fibers in the body do not function properly.1 It makes the body muscles much weaker leading to defective muscles which are different from muscle problems in neuropathies or neurogenic disorders. Know the symptoms of myofibrillar myopathy, its causes and treatment of myofibrillar myopathy.
Problems associated with myopathy are cramps and spasms which also results from internal bodily weakness where it is tough for the muscles to withstand any pressure arising out of normal bodily movement like walking or turning to fulfill some work. Myopathy is a disorder of rheumatology and is a common cause of partial disability in most people. While it affects both sexes, women are more affected by it owing to weak bones triggered by aging and loss of calcium.
Myofibrillar myopathy is a part of muscular dystrophies which severely affects the muscles causing immense weakness which leads to weakening of skeletal muscles. It is not only the muscles or leg and arms that are affected by myofibrillar myopathy but can also affect the heart muscles.
Causes of Myofibrillar Myopathy
The possible causes of myofibrillar myopathy are thought to be poor diet and stress. For this reason, doctors recommend a proper healthy diet so that muscular weakness symptoms can be curtailed. Some of the causes of myofibrillar myopathy are related to the genetic factors but other causes too can contribute to the restricted physical mobility in later age.
Myofibrillar myopathy being a rare disorder remains a more unexplored area of research. Myofibrillar myopathy is more prominent during middle age but some may be seen during the infancy and childhood.
People with a family history of myofibrillar myopathy have an increased risk of this disorder. Gene mutation is an important cause of myofibrillar myopathy and following genes are held responsible.
- MYOT gene
- LDB3 gene
- FLNC gene
- DES gene
- CRYAB gene
- BAG3 gene.
It is an autosomal dominant condition which is not carried on X or Y chromosomes but minor mutation in the genes can be a cause of myofibrillar myopathy.
Symptoms of Myofibrillar Myopathy
Symptoms of myofibrillar myopathy include weakened heart muscles along with muscle pain also known as myalgia. Myofibrillar myopathy also leads to failure of respiratory system and loss of sensation in the limbs (peripheral neuropathy). Some of the general symptoms of myofibrillar myopathy include the following:
- Joint stiffness also called contractures
- Scoliosis or side-to-side curvature of spine
- Cataract conditions are also formed as a result of myopathy.
Looking from more expanded view, signs and symptoms of myofibrillar myopathy also indicate presence of weakness in face which causes difficulty in swallowing food and speaking properly. In myopathy, the muscles get weak overtime which gets worsened day by day. Distal muscles or weakness in hands and feet may be partial for some or full body for those who experience more problems.
Symptoms of Myofibrillar Myopathy Involving Muscle Weakness
Myofibrillar myopathy is considered to be a genetic condition but is often noticed during mid-adulthood when the signs of the weakness begin to set in. But in most of the cases, it is observed that individuals during infancy and late adulthood begin to develop bodily weakness caused due to myofibrillar myopathy. Following signs and symptoms of myofibrillar myopathy are more dominant:
- Facial weakness which causes difficulty in swallowing and impedes speech
- Frequent falls
- Cataract may also result from this
- Muscle pain also known as myalgia
- Stiffness and weakness in muscle
- Numbness in the arms and legs also known as peripheral neuropathy
- Skeletal defects such as scoliosis
- Stiffening in joints
- Cardiomyopathy or weakening of heart muscles which leads to heavy or mild palpitations and so on
Treatment of Myofibrillar Myopathy
The treatment of myofibrillar myopathy depends on the underlying causes and the particular gene mutation. One or more methods may be employed by physicians to diagnose the ailment and its probable causes which include the following ways:
- Doing proper assessment of signs and symptoms of myofibrillar myopathy and to find the causes of myofibrillar myopathy.
- In case, myofibrillar myopathy is suspected, genetic testing is carried out to find out if there is a typical kind of gene mutation involved in it.
- To detect cancerous conditions in the body muscle biopsy is carried out which indicates if abnormalities are present in the muscle structure.
- To evaluate electrical activity in the skeletal muscles electromyography is carried out.
There is no specific treatment of myofibrillar myopathy but the treatment is aimed at relieving symptoms and improving the overall condition. Treatment of myofibrillar myopathy aims at improving the muscle strength, to enable the patient to live comfortably without any disability in movement.
Following treatments are available for myofibrillar myopathy which include the following:
- To improve muscle abnormalities, bracing and stretching techniques are used
- For any abnormality, correction in joints and bones, specific orthopedic surgery is carried out only after weighing the condition of the patient
- Pain relievers ensure that the person can carry on with their day-to-day activities
- To protect the heart muscles from getting severely affected, pacemakers may be considered.