ALD has different faces with some individuals presenting during childhood and
others not until later in life during adult years.
Childhood Cerebral Demyelinating ALD
Childhood Cerebral ALD (CCALD) is the most devastating form of ALD, representing about 35% of all cases. It is characterized by an inflammatory process that destroys the myelin, causing relentless progressive deterioration. It generally occurs between the ages of four and ten years old. Normal, healthy boys suddenly begin to regress. At first, they may simply show minor behavioral problems, such as withdrawal or difficulty concentrating, vision problems, or start to have coordination issues. Gradually, as the disease spreads throughout the brain, their symptoms grow worse, including blindness, deafness, seizures, loss of muscle control, and progressive dementia. This relentless downward spiral leads to a vegetative state or death usually within 2-5 years of diagnosis.
The majority of patients with ALD will experience the adult form of the disease known as Adrenomyeloneuropathy (AMN). It begins to affect men in their 20s and 30s, and progresses slowly. As people (men and women) with AMN age, more become affected.
AMN affects the longest nerve fibers of the spinal cord. These fibers conduct signals from the brain to the legs and the bladder and back to the brain. Patients can experience some of the following symptoms:
Walking and balance problems
These problems can begin as general leg weakness and stiffness and progress to walking difficulty. Some people have more problems with their balance. Leg weakness and balance problems can change the way a person walks. Mobility devices, such as canes, walkers, and wheelchairs may be needed over time.
- Pain, numbness, or tingling in the legs
- Mild to moderate weakness of the arms/hands
- Urinary disturbances or incontinence and bowel urgency or incontinence
- Sexual dysfunction, or the inability to obtain or maintain an erection
In approximately one third of these patients the brain also becomes involved. Men can undergo the same mental and physical deterioration as previously described in the boys with CCALD. The progress of the disease is slower, usually declining to a vegetative state and/or death in 5 years or longer.
Addison’s Disease (Hypoadrenocorticism)
90% of boys and men with ALD/AMN have Addison’s disease, a disorder of the adrenal gland; in about 10% of ALD cases, this is the only clinical sign of the disorder. The adrenal glands produce a variety of hormones that control levels of sugar, sodium, and potassium in the body, and help it respond to stress. In Addison’s disease, the body produces insufficient levels of the adrenal hormone, which can be life threatening. Fortunately, this aspect of ALD is easily treated, simply by taking a steroid pill daily (and adjusting the dose in times of stress or illness).
Although women who carry the ALD gene mutation do not generally develop the brain disease itself, some display mild symptoms of the disorder. These symptoms usually develop after age 35, and primarily include progressive stiffness, weakness, or paralysis of the lower limbs, numbness, pain in the joints, and urinary problems.