Overview
Primary lateral sclerosis (PLS) is a type of motor neuron disease that affects the nerve cells in the brain that control movement. Over time, these nerve cells fail, causing weakness in voluntary muscles such as those used in the legs, arms, and tongue. PLS can lead to movement problems, difficulties with balance, slow movements, clumsiness, and eventually problems with chewing, swallowing, and speaking. The condition can develop at any age but usually occurs between ages 40 and 60 and is more common in males than females. There is a rare subtype called juvenile primary lateral sclerosis that begins in early childhood and is caused by an abnormal gene passed from parents to children. PLS is often mistaken for amyotrophic lateral sclerosis (ALS), but it progresses more slowly and is not always fatal.
Understanding the disease
Symptoms
Symptoms of primary lateral sclerosis (PLS) usually begin in the legs and progress slowly over time. They may include:
- Stiffness, weakness, and muscle spasms (spasticity) in the legs, which can eventually affect the arms, hands, tongue, and jaw
- Slowed movement
- Tripping, clumsiness, and difficulty with balance
- Hand clumsiness
- Hoarseness, slowed, slurred speech, and drooling
- Difficulties with chewing and swallowing
- Occasionally, frequent, rapid, and intense shifts in emotions (mood lability) PLS can develop at any age but is more common in males and typically occurs between ages 40 and 60. A rare subtype called juvenile primary lateral sclerosis is caused by an abnormal gene and begins in early childhood.
Development
Primary lateral sclerosis (PLS) can develop in two forms: adult-onset PLS and juvenile PLS.
- Adult-onset PLS: The cause of adult-onset PLS is unknown. In most cases, it's not an inherited disease, and it's not known why or how it begins. This form of PLS usually affects people between the ages of 40 and 60 and progresses slowly.
- Juvenile PLS: Juvenile PLS is a rare subtype that begins in early childhood and is caused by mutations in a gene called ALS2. This form of PLS is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the gene to pass it to their child, even if they don't have the disease themselves. Juvenile PLS is caused by the ALS2 gene giving incorrect instructions for creating a protein called alsin, which is present in motor neuron cells. The altered protein alsin becomes unstable and doesn't function properly, leading to impaired normal muscle function. Both forms of PLS cause weakness in voluntary muscles, such as those used for movement in the legs, arms, and tongue. The disease can cause problems with balance, slow movement, clumsiness, and difficulties with chewing, swallowing, and speaking. The progression and severity of symptoms may vary significantly from person to person.
Assessment and Diagnosis
Triage
If primary lateral sclerosis (PLS) is suspected, it is advisable to see a doctor for an evaluation. This is particularly important if you or your child experiences involuntary muscle spasms, loss of balance, or other unusual symptoms related to movement or muscle control. A pediatrician can help evaluate and determine the appropriate course of action, including further referrals to specialists if needed.
Diagnosis
To diagnose primary lateral sclerosis (PLS), your doctor will typically take a thorough medical history and perform a neurological examination. Additionally, diagnostic tests may be ordered to rule out other conditions that can cause similar symptoms. These tests may include bloodwork, MRI, and in some cases, genetic testing and repeat electromyography over a period of 3-4 years. Early-stage PLS can sometimes mimic other neurological diseases, such as ALS, so doctors may need to monitor the progression of symptoms before making a definitive diagnosis.
Management and Treatment
Complications
Primary lateral sclerosis (PLS) can lead to several complications, including:
- Mobility issues: As the disease progresses, affected individuals may experience weakness in their voluntary muscles, including those in the legs, arms, and tongue. This can result in difficulty with balance, slow movements, and clumsiness. Eventually, some people may need to use wheelchairs or other assistive devices for mobility.
- Difficulty with swallowing and speech: PLS can cause weakness and involuntary muscle spasms (spasticity) in the tongue, jaw, and throat, leading to problems with swallowing and speech. Drooling and hoarseness may also occur.
- Emotional and psychological challenges: The slow progression of PLS and the resulting mobility and communication challenges can lead to emotional and psychological issues, such as anxiety, depression, and mood swings.
- Reduced quality of life: The symptoms and complications of primary lateral sclerosis can significantly impact an individual's daily life, independence, and overall quality of life. It's essential to consult a pediatrician if your child displays involuntary muscle spasms or has difficulty with balance, as early intervention and support can help manage the symptoms and complications of PLS.
Home Remedies
regarding home remedies specific to primary lateral sclerosis. It's important to consult with a healthcare professional for personalized advice and treatment options.
Treatment
There are no specific treatments to prevent, stop, or reverse primary lateral sclerosis (PLS). Treatment for PLS focuses on relieving symptoms and preserving function. Options may include medication to relieve muscle spasms (spasticity), speech and language therapy if facial muscles are affected, nutrition support for difficulty with chewing and swallowing, assistive devices as the condition progresses, and coping and support strategies to manage the emotional impact of the disease. It is important to note that primary lateral sclerosis can mimic other neurological diseases such as multiple sclerosis and amyotrophic lateral sclerosis (ALS). Therefore, doctors may perform several tests, including bloodwork, MRI, and neurological exams, to rule out other conditions before making a diagnosis.