Everyone’s journey with ALSP is different. ALSP can present with different symptoms within the same family. The course of ALSP can range from 2 to over 30 years.
ALSP is a progressive disease that is characterized by issues with judgment, personality and psychological changes, and problems with movement.
It is important for people with ALSP to build a support system including family, friends, caregivers, advocacy organizations, and medical professionals to help navigate their symptoms and improve their quality of life.
Symptoms often begin with mild psychological changes and eventually develop into loss of movement and overall function. Early signs of ALSP can be very hard to distinguish from other neurological disorders. These symptoms usually include poor judgment, depression, personality changes, and limited movement problems. As ALSP progresses, the disease can lead to mental decline, severe depression, apathy, anxiety, irritability, and dementia.
Other symptoms of advanced ALSP include problems sensing vibration, body position, touch, and pain. Some individuals may also have seizures.
Because ALSP is a progressive disease, movement problems will usually develop over time and include Parkinsonian tremor, rigidity, slow movements, and problems sitting or standing.
While rare, some people with ALSP may develop stroke-like symptoms and problems with their bones or eyes.
Final stages of ALSP include loss of speech and voluntary motor movement, development of a vegetative state and death. New experimental treatments may help slow or stop the disease.
ALSP can progress quickly. Many of the initial symptoms can be misdiagnosed as other neurological disorders.
Symptoms of ALSP can overlap with other neurological conditions, and genetic testing for the CSF1R mutation can confirm an ALSP diagnosis. In addition to genetic testing, an MRI can verify lesions in the brain caused by the loss of myelin, a protective layer for brain cells, around neurons (brain cells). CT scans can detect other abnormal areas in the brain.
There are currently no FDA-approved treatments for ALSP. Those who have it experience a wide range of symptoms. Several existing medications are being used off-label to treat ALSP symptoms. The term “off-label” means the medication is being used in a manner not specified in the FDA’s approved packaging label or insert. Some of these medications include anti-depressants, muscle relaxers, anti-epileptic medications for patients with seizures, and antibiotics for patients that develop pneumonia and urinary tract infections.
Physical therapy may be used to help with movement and muscle problems that result from ALSP. For any genetic disease, psychological and genetic counseling are commonly recommended to cope with mental and physical symptoms as well as the potential risk of inheritance of ALSP in other family members.
In some cases, bone marrow transplants are possible. See Clinical Trials for more details.