Motor neuron disease

Doctors often find it difficult to diagnose MND in the early stages, as it can resemble other conditions, such as multiple sclerosis.

If a doctor suspects that someone has MND, they will refer them to a neurologist, who will take a medical history and do a thorough examination. They may also ask for tests, such as:

Blood and urine tests: These can help rule out other conditions and detect any rise in creatinine kinase, a substance that muscles produce when they break down.

MRI brain scan: An MRI cannot detect MND, but it can help rule out other conditions, such as a stroke, a brain tumor, or unusual brain structures.

Electromyography (EMG) and nerve conduction study (NCS): An EMG measures the amount of electrical activity in muscles, while an NCS measures the speed at which electricity moves through muscles.

Spinal tap, or lumbar puncture: A doctor takes a sample of cerebrospinal fluid, which surrounds the brain and spinal cord. Analyzing this can help rule out other conditions.

Muscle biopsy: This can help detect or rule out a muscle disease.

There is no cure for MND, but treatment may slow the progression and maximize the person’s independence and comfort. Medications, supportive devices, and physical therapy can help.

The choice of treatment depends on factors such as:

the form of MND

the type and severity of symptoms

personal needs and wishes

the availability and affordability of drugs

Slowing disease progression

Drugs appear to be effective at slowing the progression of some types of MND. Examples include edaravone (Radicava) for ALS and nusinersen (Spinraza) and onasemnogene abeparvovec (Zolgensma) to treat SMA.

Muscle cramps and stiffness

Medications, such as botulinum toxin (Botox), can help. Botox injections can block the signals from the brain to the stiff muscles for about 3 months at a time.

Baclofen (Lioresal), a muscle relaxer, may help ease muscle stiffness, spasms, and yawning. A doctor can surgically implant a small pump to deliver regular doses to the space around the spinal cord. From there, the drug reaches the nervous system.

Some people may also find that physical therapy helps alleviate cramps and stiffness.

Pain relief

A nonsteroidal anti-inflammatory drug, such as ibuprofen (Advil, Motrin), can help with mild to moderate pain from muscle cramping and spasms.