There are a range of different forms of the disease amyotrophic lateral sclerosis (ALS) and also different ways in which it is classified.
It can be classified by clinical onset, such as with spinal or bulbar ALS, or it can be defined by the underlying cause, i.e. whether or not it is sporadic (not inherited) or familial (inherited).
This is the most common way in which the disease is classified.
In familial cases of ALS, it means that the condition has been inherited from a parent. Sporadic essentially means that there is no perceived genetic component. 90% of cases are thought to be sporadic whilst the remaining 10% are familial. However, recent research suggests that the incidence of familial ALS may be more significant than what was originally thought.
There is more differentiation when clinical onset is considered:
An extremely rare form of the disease is juvenile ALS, which affects children and young adults under the age of 25. Here we take a closer look at this form of ALS, the symptoms associated with it and how it can be managed.
Juvenile ALS is a rare form of the neurodegenerative disease known as amyotrophic lateral sclerosis. It typically exhibits before the age of 25 years old. It is debilitating and progressive in its nature and the prognosis for someone diagnosed with juvenile ALS is poor.
The actual progression of the disease following diagnosis can vary tremendously. In some cases, full paralysis can result whilst the individual is still in childhood. In other cases, the diagnosed individual may reach the age of 50 years or more before experiencing a similar level of paralysis.
Stephen Hawking is an example of a well known public figure who developed early-onset ALS, and he lived with the disease until the age of 76.
The symptoms of juvenile ALS vary from person to person. The most common defining factor is that it begins before the age of 25. The median age of developing this form of ALS, however, is 6.5 years.
Symptoms often include:
Some individuals with juvenile ALS may develop uncontrolled crying or laughter that is not related to their emotions as well as experience sensory disturbances. This is known as pseudobulbar affect (PBA).
As with most other forms of the disease, the root cause of juvenile ALS is unknown. A familial connection has been established with the identification of a number of mutated genes including ALS1 and SIGMAR1 that are involved in motor neuron performance. These mutations, however, can occur spontaneously which means they may not be inherited from parents.
There is no cure for juvenile ALS, just like there is no cure for any form of this devastating disease. However, there are medications and treatment options that help individuals alleviate their symptoms and thus cope better with the disease. A lot depends on the prognosis and how quickly or slowly the disease progresses.
Diagnosis is usually undertaken through a medical examination and can include an MRI scan. A lot will depend on how quickly symptoms begin to manifest and the impact that these have on the individual, especially if they are very young.
An individual diagnosed with juvenile ALS will benefit from working with occupational and physical therapists. Drugs can be used to control issues like spasticity and muscle cramping. As the disease progresses, assistive technology including wheelchairs and speech generation devices can be utilized to help the individual lead a fuller life.
A multi-disciplinary team is often employed to help support someone with juvenile ALS especially as the disease progresses. In the later stages of the disease, the individual will likely become paralyzed and will need help breathing and eating.
Mental capacity is not normally affected by juvenile ALS. Before the disease progresses fully, individuals can learn to use assistive technology and undertake preparations such as voice banking to ensure they are able to communicate effectively once they have lost the ability to speak.