It is a broad term for many disorders that impair the functioning of the muscles, either directly involving the muscles, or indirectly by involving nerves and the junction of nerves with the muscles.
They may present as weakness, loss of muscle bulk, cramps, numbness and wide range of other symptoms including droopy eyelids, double vision and difficulty in swallowing.
Neuromuscular diseases affect the lower motor neurons of the nervous system, which may include the muscles, nerves, or the junction between muscles and nerves (known as a neuromuscular junction). A familiar group of neuromuscular disorders is known as muscular dystrophies, but there are many other kinds of neuromuscular disorders. Dr. Krupa Torne is specialist in treating all types of neuromuscular disorders. Her clinic provides a multidisciplinary setting for the diagnostic evaluation and follow-up care of infants and children with known or suspected neuromuscular disorders.
What Causes Neuromuscular Disease?
There are different types of Pediatric Neuromuscular Disease. These may include inherited neuropathies, such as Charcot-Marie-Tooth (CMT) disease and muscular dystrophies such as Duchenne, Congenital Myasthenic Syndromes and Congenital Myopathies.
Since the mid-1980s, science has made many breakthroughs in understanding the genetic causes of neuromuscular diseases, as well as their inheritance patterns. Through genetic testing and counselling, patients and their families can better understand how disorders are inherited and the roles that genes play in certain diseases.
Some neuromuscular diseases are caused by an immune imbalance. They may have markers in the blood that can be tested, or they may require other tests, such as an electromyogram (EMG), to confirm the diagnosis
What Are the Symptoms of Neuromuscular Disease?
Children with neuromuscular disease symptoms may have:
- Low muscle tone (hypotonia)
- Delayed motor milestones like delayed walking or abnormal gait
- Muscle weakness, atrophy, twitching, or rippling
Although some of these symptoms may be due to life-threatening diseases, others do not affect life expectancy and are treatable with expert opinion from Dr. Krupa Torne, the best in class Pediatric
Neurologist in Mumbai.
What is EMG & NCV?
Electromyography (EMG) is a diagnostic procedure to assess muscles and the nerve cells (motorneurons). EMG results can reveal nerve dysfunction, muscle dysfunction or problems with nerve-to-
muscle signal transmission.
EMG results are necessary to help diagnose conditions such as:
- Muscle disorders, such as muscular dystrophy or polymyositis
- Myasthenia Gravis
- Disorders of peripheral nerves – peripheral neuropathies
EMG is a low-risk procedure, and complications are rare.
Nerve Conduction Velocity (NCV):
Also called an electroneurography, EneG, or nerve conduction study, a nerve conduction velocity (NCV) test is a measurement of the speed of conduction of an electrical impulse through a nerve. NCV can determine nerve damage and destruction. During the test, the nerve is stimulated, usually with surface electrode patches attached to the skin.
Two electrodes are placed on the skin over the nerve. One electrode stimulates the nerve with a very mild electrical impulse and the other electrode records it. The resulting electrical activity is recorded
by another electrode. This is repeated for each nerve being tested.
The nerve conduction velocity (speed) is then calculated by measuring the distance between electrodes and the time it takes for electrical impulses to travel between electrodes.
Generally, a NCV procedure follows this process:
- You will be asked to remove any clothing, jewelry, hairpins, eyeglasses, hearing aids, or other metal objects that may interfere with the procedure.
- If you are asked to remove clothing, you will be given a gown to wear.
- You will be asked to sit or lie down for the test.
- A neurologist will locate the nerve(s) to be studied.
- A recording electrode will be attached to the skin over the nerve with a special paste and a stimulating electrode will be placed at a known distance away from the recording electrode.
- The nerve will be stimulated by a mild and brief electrical shock given through the stimulating electrode.
- You may experience minor discomfort for a few seconds.
- The stimulation of the nerve and the detected response will be displayed on an oscilloscope (a monitor that displays electrical activity in the form of waves).