Schilder's Disease Symptoms & Diagnosis

X-linked ALD (Childhood Cerebral ALD)

This form is the most severe. It only affects boys. Symptoms usually begin between 2–10 years of age. About 35% of patients can have severe symptoms during the early phase. On average, death results in two years. Some patients may live a couple of decades.

Initial symptoms include:

• Behavioral changes
• Poor memory

• Vision loss
• Seizures
• Hearing loss
• Difficulty swallowing and speaking
• Difficulty with walking and coordination
• Vomiting
• Fatigue
• Increased pigmentation (“bronzing”) of the skin, due to adrenal hormone deficiency ( Addison’s disease )
• Progressive dementia
• Vegetative state or death

X-linked ALD (Adolescent Cerebral ALD)

This type is similar to the childhood type. In this type it begins around 11-21 years of age. The progression is usually slower.

Adrenomyeloneuropathy (AMN)

This is the most common form. Symptoms of AMN can present in the 20s. It progresses slowly. They can include:

• Weakness, clumsiness, weight loss, nausea
• Emotional disturbances or depression
• Muscle problems (eg, walking problems)
• Urinary problems or impotence
• Adrenal gland dysfunction

X-linked ALD (Adult Cerebral ALD)

With this type, symptoms usually do not appear until young adulthood (20s) or middle age (50s). It causes symptoms similar to schizophrenia and dementia . It usually progresses fast. Death or a vegetative state can occur in 3-4 years.

Symptomatic Heterozygotes

This form is only seen in women. Symptoms may be mild or severe. It usually does not affect the adrenal gland function.