Introduction:
Muscles are soft tissues made up of stretchy fibers. There are hundreds of different types of muscles in the human body. Simple tasks like holding a pen, running, walking, or jumping are done with the help of muscles. Muscle tissue is of three types in the body, skeletal (works with bones and ligaments), cardiac (helps the heart in pumping blood), and smooth muscle (this muscle lines the organs like the stomach and intestines). A limb-girdle muscular dystrophy is a group of diseases that causes weakness characterized by wasting (atrophy) muscle. Muscle atrophy is the wasting of muscle tissue.
What Is Limb-Girdle Muscular Dystrophy?
It is a rare genetic disorder that causes muscle wasting and weakness, mainly in the arms and legs. The term limb-girdle muscular dystrophy is given due to the characteristic of wasting of muscles and weakness of voluntary muscles of hips and shoulders (limb-girdle area). Both muscle weakness and atrophy are progressive and spread to other body muscles. In the initial limb-girdle muscular dystrophy, an individual affected by the condition may have problems walking or running. If the condition becomes severe, then an individual may require a wheelchair.
What Are the Causes of Limb-Girdle Muscular Dystrophy?
A mutation of different genes causes limb-girdle muscular dystrophy. These particular genes give instructions for making proteins that work in muscle repair and management. Two types of genetic disorders cause this condition. First, these genes help in the production of protein muscles which are located in the membrane or cell of each muscle.
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Recessive Genetic Disorder - A genetic disorder occurs when an individual inherits the defective gene of the same trait from each parent. When the child carries one normal gene and one defective gene, then they become the carrier which means that the individual may not suffer from the condition but can forward the defective gene to their children. Both parents of the defective gene affect 25 % of the children with each pregnancy.
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Dominant Genetic Disorder - It occurs when a single copy of the abnormal gene is sufficient to pass on the disorder. This defective gene can be inherited from any parent and causes gene mutation in the child. The risk increases to around 50 % with each pregnancy, regardless of gender. A dominant genetic disorder can occur without a family history in some cases.
What Are the Symptoms of Limb-Girdle Muscular Dystrophy?
Symptoms of this condition include:
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Difficulty climbing stairs.
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Muscle pain around pelvis and hips.
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Abnormal side-to-side spinal curvature (scoliosis).
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Abnormal front-to-back curvature of the spine (lordosis).
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Weakness in the upper leg.
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Pain in shoulders and upper arms.
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Weakening of heart muscle.
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Fatigue.
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Overgrowth of the calf muscle
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Swelling around the calf muscle.
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Weakness of distal muscle of legs.
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Not able to sit or stand and need to use a wheelchair even for short distances.
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Loss of muscle tone (hypotonia).
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Pain in upper limbs.
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Getting tired easily.
How Is Limb-Girdle Muscular Dystrophy Diagnosed?
It is diagnosed by using different types of tests, which include:
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Genetic Testing - The genetic test in limb-girdle muscular testing is done to check the gene mutation involved. It helps in confirming the diagnosis if any other muscular dystrophy is also there which has the same features. A genetic test consists of the DNA of any cell, and in muscular dystrophy, it involves the muscle cell. It may be done by both the child and parents to confirm if the child is the carrier.
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Muscle Biopsy - Muscle biopsy in limb-girdle muscular dystrophy is mainly considered for accurate diagnosis. A healthcare expert performs it after examining the body and checking the visible symptoms. It is done in two ways. First, an open biopsy is done by removing one or more muscle tissues with the help of a sharp scissor. Then, the healthcare expert carefully selects the sample's muscle, usually a bicep or deltoid muscle. The second method used for muscle biopsy is needle biopsy, in which a pea size muscle sample is collected with the help of a needle. The sample is then sent to the laboratory, where the technician cuts it into fine pieces and, by using different chemical activities in tissues, helps examine and diagnose the condition.
How Is Limb-Girdle Muscular Dystrophy Managed?
Limb-girdle muscular dystrophy can be treated through various methods, which include:
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Medications are given to relieve the pain caused due to muscle weakness. Corticosteroids such as Prednisone and Emflaza help in strengthening the muscles.
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Many therapies, such as muscle, respiratory, and occupational therapy, help relieve the symptoms. Respiratory therapy optimizes respiratory function and helps in breathing more comfortably. Occupational therapy helps people who have symptoms like pain during swallowing. Lastly, muscle therapy is done by experts who help in relieving pain and soreness in the muscles.
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The doctor may also give a special diet chart for patients with swallowing difficulty.
Conclusion:
Limb-girdle muscular dystrophy is a rare genetic disorder that can occur in both children and adults. Muscular dystrophy may cause severe pain, and the affected individual may have a problem while walking a few steps. Overexerting while exercising can worsen this condition. It is mainly caused due to genetic mutation, which means it is passed on from the parent with the same defective gene. Tests like muscle biopsy and genetic testing help in diagnosing this condition. It is not life-threatening and can be treated by taking proper medications and therapies. Taking a proper diet and regular doctor visits will help recover faster.