Motor neuron diseases (MNDs) comprise several progressive neurological disorders. These conditions can impact activities like speaking, walking, and swallowing. Diagnosis of these conditions must be made by a doctor through testing. Once you’ve been diagnosed, your doctor may be able to stabilize your condition so it’s easier to live with. Individuals with MNDs can continue to live fulfilling lives, despite their medical condition.
EditRecognizing Symptoms of MDNs
- Notice a loss of muscle control in your legs. The early symptoms of MNDs involve weakening muscles and diminished muscle control. These symptoms typically begin in 1 of 3 areas: the legs, the hands and arms, or the mouth. Tripping, falling, or having trouble walking are often early signs of progressive MNDs. Symptoms of a developing MND also include having trouble putting weight on your legs and ankles.
- Recognize weakness in your wrists and hands. You may notice an inability to make a fist, or you may begin to drop objects more and more frequently. These are signs of a loss of muscle control, and may indicate a developing MND. Although these symptoms can be frustrating or embarrassing, they will be valuable in helping your doctor diagnose your MND.
- If MND symptoms begin in your hands, you may also have trouble opening doors, turning your car keys in the ignition, or giving a firm handshake.
- Pay attention to speech problems. Many MND symptoms are in the bulbar muscles: those located in the mouth and throat. MNDs may cause your speech to become slowed, slurred, or more nasal than usual. You may also find yourself unable to shout loudly or unable to sing.
- Notice if you have difficulty chewing or swallowing. If chewing or swallowing has become harder, or if you feel a general weakness in your facial muscles, you may want to get a medical diagnosis. Individuals with these symptoms may also experience painful twitches or cramps in their facial muscles.
- Cramps and muscle soreness can be reduced by medications or physical therapy.
- Notice any difficulty completing daily tasks. Although you may not notice general weakness or loss of dexterity until an MND reaches more advanced stages, you are likely to notice if it is harder for you to do normal activities. If daily activities—like making coffee, writing with a pen, or climbing in and out of bed—have become difficult, it could be due to muscle weakness and a lack of muscle control.
EditTalking to Your Doctor
- See your doctor as soon as you notice signs of an MND. If you experience any of the described symptoms of MNDs, make an appointment to see your general physician. Explain the duration and severity of your symptoms. If the doctor suspects that you do have an MND, they’ll probably refer you to see a neurologist for tests and a more accurate diagnosis.
- Ask your doctor to run genetic tests to screen for specific MNDs.
- Tell your doctor if anyone else in your family has suffered from an MND. Although MNDs can be inherited, this only happens in about 1 in 20 cases. So, while it’s quite unlikely that your case of MND is inherited, there’s always a slight chance.
- Common MNDs include: amyotrophic lateral sclerosis (ALS), Progressive bulbar palsy (PBP), and Progressive muscular atrophy (PMA).
- If you’re unsure about a family history of MNDs, call up family members and ask if anyone in your family has suffered from a form of MND.
- Assess your exposure to potentially hazardous chemicals. It’s believed that exposure to certain chemicals and to radiation may increase your risk for non-inherited forms of MND. There’s a chance that smoking may also play a role in developing MNDs.
- Tell your doctor if you have been exposed to radiation or chemicals such as herbicides or arsenic.
EditDiagnosing MDNs through Medical Tests
- Ask your doctor for a physical exam. While you’re in the office, your doctor will test your vitals, reflexes, senses, and muscle strength. They will also ask you questions regarding your medical history, and about how you are feeling.
- Prepare for your appointment by making a list of your symptoms, including when you experienced them and how severe they were.
- Undergo a neurological exam. A neurological exam will involve the use of medical hammers and flashlights, and can be done in your doctor’s office. This painless exam is used to assess your motor skills, sensory skills, coordination and balance, hearing and speech, vision, nerve function, and mental clarity.
- This can help your doctor rule out other potential medical conditions, as well as determine which tests may be useful moving forward.
- Allow your doctor to draw blood and run other laboratory tests. Lab tests will help rule out other medical conditions when diagnosing an MND. 
- Laboratory tests—run on substances including blood, urine, and other bodily substances—are generally painless, although they may involve a small prick to draw blood.
- Ask your doctor to perform an MRI. An MRI (or magnetic resonance imaging test) involves lying down inside a large machine for 15–90 minutes. The procedure will generate an image of the interior of your body that doctors can use to assess muscles and diagnose MNDs. An MRI can be used to rule out diseases that affect the spinal cord and brain.
- Your doctor may allow you to use pillows, blankets, and headphones to make yourself more comfortable during your MRI.
- Undergo a biopsy to confirm nerve disease. A biopsy may be needed to make a definitive MND diagnosis. This will involve the removal of a small muscle sample through a needle or tiny slit. Your doctor will use a local anesthetic to help with any pain.
- Once the tissue sample has been removed, doctors can study the muscle tissue and examine it for signs of MND.
- You may experience soreness in the area of your biopsy for a few days afterward.
- Undergo electromyography (EMG) to diagnose lower neuron disorders. Doctors will also suggest an EMG in order to examine muscle disorders, or disorders of peripheral nerves. This procedure involves the insertion of a thin needle electrode with a recording instrument into one of your muscles. Testing usually lasts about an hour.
- Your doctor may give you a local anesthetic to help with any minor pain.
- Ask your doctor to conduct a nerve conduction velocity study. A nerve conduction study is very simple. It involves the placement of electrodes on the skin. Through these electrodes, your doctor can measure the impulses in your nerves and detect any abnormalities.
- A nerve conduction velocity study is usually done in conjunction with an EMG.
- Request a transcranial magnetic stimulation test to study your brain. For this test, electrodes will be attached to different areas of your body. Your doctor will stimulate a pulse in your brain, and the electrodes will measure the amount of muscle activity generated by the pulse. This information can help your doctor diagnose upper motor neural dysfunction caused by MNDs.
- This procedure is totally painless.
- Create a treatment plan with your doctor after diagnosis. MNDs are incurable, but you can work with your doctor to manage the symptoms of your MND and live as comfortably as possible. Ask your doctor about physical therapy, which will help with muscle stiffness. If your mouth is effected by the MND, your doctor can refer you to a speech therapist.
- Ask your doctor about the two drugs that have been approved by the FDA for the treatment of MNDs: Riluzole (or Rilutek), and Radicava (Endaravone). These medications increase survival rates and slow the rate at which MNDs destroy tissue.
- Your doctor can also prescribe other medications to help with common side effects of MNDs, including muscle cramps and drooling.
- People who are diagnosed with an MND often suffer from anxiety or depression. If you’ve been diagnosed, you may want to reach out to support groups for comfort and advice.
- MNDs can be tricky to diagnose since their symptoms will look different for different people. Symptoms of MNDs can vary widely, and they can resemble the symptoms of other diseases. If you feel anything out of the ordinary, you should get it checked out by a doctor.