How does ALD affect the individual?

ALD is a multisystem disease, but most prominently affects both the central and peripheral nervous systems, which are responsible for all of the body’s voluntary and involuntary functions. Damage to the brain results in blindness, seizures and hyperactivity. Other effects include problems with speaking, listening, and understanding verbal instructions. Damage to the spinal cord results in the loss of the ability to walk and maintain normal breathing.

The most severely affected tissues outside of the nervous system are the adrenal cortex, and the Leydig cells in the testes. Damage to the adrenal cortex results in adrenal insufficiency or Addison’s Disease. Damage to the testes results in infertility.

The rate of progression depends on what form of the disease the individual has. There is NO way to know at birth what form of ALD your son will develop. With proactive, comprehensive medical care the symptoms of ALD can be managed and give the individual the best quality of life possible. Furthermore, through ALD newborn screening, affected children have the opportunity to benefit from lifesaving treatment.


What are the different forms of ALD?

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)

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.


Adrenomyeloneuropathy

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).


Female ALD

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.

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