ALD Foundation - Raise Awareness

Carriers Information

Approximately 40% of X-ALD heterozygotes (female carriers) develop neurological symptoms similar to those encountered by AMN patients. Age of symptoms for the heterozygotes is late 30's to 40's. It is also worth noting that patients presenting in Neurology Clinic for investigation of M. S. like symptoms. Adrenal function is almost always normal.

Table 1b: Phenotypes in female X-ALD carriers
Phenotype	Description	Estimated relative frequency	Adreno - cortical - insufficiency
Asymptomatic	No neurologic or adrenal involvement	Diminishes with age	<1%
Mild myeloneur opathy	Increased deep tendon reflexes and sensory changes in lower extremities	Increases with age. ~50% at age > 40 years	~ 1%
Moderate to severe myeloneur opathy	Resembles AMN, but milder and later onset.	Increases with age. > 15% at age > 40	~ 1%
Clinically evident Addison disease	Rare at any age.		~ 1%

Carriers Information

Phenotype: Asymptomatic
Description: No neurologic or adrenal involvement
Estimated relative frequency: Diminishes with age
Adreno - cortical - insufficiency: <1%

Phenotype: Mild myeloneur opathy
Description: Increased deep tendon reflexes and sensory changes in lower extremities
Estimated relative frequency: Increases with age. ~50% at age > 40 years
Adreno - cortical - insufficiency: ~1%

Phenotype: Moderate to severe myeloneur opathy
Description: Resembles AMN, but milder and later onset.
Estimated relative frequency: Increases with age. > 15% at age > 40
Adreno - cortical - insufficiency: ~1%

Phenotype: Clinically evident Addison disease
Description: Rare at any age.
Estimated relative frequency: N/A
Adreno - cortical - insufficiency: ~1%