Muscular dystrophy is a neuromuscular disease which causes progressive weakness and loss of muscle mass. It occurs due to abnormal genes interfering with the production of proteins needed to form healthy muscle. Most of the symptoms of muscular dystrophy begin in childhood, whereas, the chronic symptoms don’t surface until adulthood. Progressive muscle weakness is the main sign of muscular dystrophy. There are several diagnostic procedures that help in confirming if a person is suffering from a neuromuscular disease. One of them is genetic testing. The diagnostic procedure uses blood samples and examines them at the genetic level for a mutation that might be causing the neuromuscular disease. Read on as the article discusses more about the diagnostic procedure and its efficiency in confirming if the person is suffering from muscular dystrophy. Genetic testing As discussed above, genetic testing is used to analyze the cells in a blood, tissue, or saliva sample to look for specific mutations in the DNA that might be causing muscular dystrophy or other neuromuscular diseases. It is believed that each of the 30 different types of muscular dystrophy is associated with a unique genetic mutation. These mutations repeat their genetic codes in a single piece of ribonucleic acid (RNA).

Living with a chronic, degenerative condition can be incredibly taxing on the individual suffering from it and their families, as there is no permanent cure to put a stop to the gradual deterioration the patient has to undergo. One such progressive ailment, which is known to affect one in 10,000 people in the country and affects the mind and body alike, is the Huntington’s disease. This disease is an inherited condition as it occurs due to the defective gene that the child inherits from their parents. Huntington’s disease is characterized by the progressive breakdown of the nerve cells in the brain, which, in turn, affects the individual’s functional abilities and causes movement, thinking, and psychiatric disorders. One of the prominent symptoms of Huntington’s disease is chorea, and like all the other symptoms associated with this condition, it gradually worsens over time. Chorea is basically a movement disorder that causes involuntary, unpredictable body movements, which can range from minor ones like fidgeting to severe uncontrolled movements of the arms and legs. It is known to be a symptom occurring in several other health conditions as well, and the treatment of the same depends on the type of chorea the patient suffers from.

Causes, symptoms, and treatment of periodic paralysis Paralysis is a health condition that people usually associate with old age or near-fatal accidents. However, there’s a condition called periodic paralysis that is known to affect people irrespective of their age groups. Periodic paralysis or primary periodic paralysis is a group of rare diseases that can temporarily make the muscles weak, stiff, or unable to move. These episodes of periodic paralysis can last up to a few minutes to a few days and depend on the type of periodic paralysis one has. The major types of periodic paralysis include hypokalemic periodic paralysis (hypoKPP), hyperkalemic periodic paralysis (hyperKPP), paramyotonia congenita, and Andersen-Tawil Syndrome (ATS). The type of periodic paralysis one develops depends on the problem that cells have with their channels for sodium, chloride, calcium, or potassium. To function normally, one needs the right balance of these minerals inside and outside of the cells as this helps the muscles to move the way they should. Any problem with the channels for these key minerals can lead to either type of periodic paralysis. Causes of periodic paralysis Periodic paralysis is a condition that is caused by flaws in the genes that control sodium, chloride, potassium, and calcium channels in the muscle cells.

Cystinuria is a rare disease that causes amino acid cystine stones in the bladder, kidneys, and ureters. This disease is inherited and is often passed down to children from their parents due to the defect in their genes. Cystinuria is inherited by a child from both their parents, not just one. This condition leads to the accumulation of cystine inside the kidneys and affects the functioning of the kidneys. People who suffer from this condition develop stones that are made of amino acid cysteine that get stuck in the ureters, kidneys, and bladder. This often causes a lot of pain till the stone passes out of the body through urination. However, in cases where the stones are too large to pass through, a surgical method for removal is required. The problem with this disease is that the stones can recur amino acid cystine in the body. Therefore, there are treatments available to control the pain and prevent the formation of more stones. Symptoms of cystinuria Cystinuria is a lifelong condition that has symptoms that usually occur when a person reaches the young adult age. However, cases have been reported where the symptoms were present in infants and adolescents as well.