Neuromuscular Disorder
Neuromuscular disorders are acquired or inherited (genetic) conditions that affect some part of the neuromuscular system. Neuromuscular disorders tend to be progressive in nature, and result in muscle weakness and fatigue. Some neuromuscular disorders are present at birth, some manifest in childhood, and others have an adult onset. The disease may be genetically passed down or due to a spontaneous genetic mutation, may be due to an abnormal immune response, inflammation, poisoning, toxins or tumors. Some neuromuscular disorders simply have no known cause.
Symptoms of neuromuscular disorders
The symptoms of neuromuscular disease vary according to the condition and may be mild, moderate or life threatening. Some of these symptoms may includeMuscular weakness
Muscle wastage
Muscular cramps
Muscle spasticity (stiffness), which later causes joint or skeletal deformities
Muscle pain
Breathing difficulties
Swallowing difficulties.
Causes and Risk Factors
Neuromuscular disorders can be inherited or caused by a spontaneous gene mutation; some also may be caused by immune system disorders.
Diagnosis
A physician will examine the patient and take a medical and family history. Checking a patient’s reflexes and muscle strength, as well as evaluating other symptoms, may lead a physician to order other diagnostic tests, including:
- Blood test to check for elevated enzymes
- Magnetic resonance imaging (MRI) scan of the brain and spinal cord
- Lumbar puncture (spinal tap) to check cerebrospinal fluid
- Electromyography (EMG) to record the electrical activity of each muscle
- Nerve conduction studies to see how well signals travel from nerve to muscle
- Muscle biopsy to examine a sample of muscle tissue under a microscope
- Genetic testing to confirm gene mutations