Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.
Eyes front and ears open. Class is now in session.
The disease that we will be learning about today is:
Also known as Siemerling–Creutzfeldt disease.
What is Adrenoleukodystrophy?
- Adrenoleukodystrophy (ALD) is characterized by progressive neurologic deterioration due to demyelination of the cerebral white matter
- Also known as Lorenzo’s Oil disease, ALD affects 1 in every 20,000 male births worldwide
- The cerebral form of ALD (CALD) is the most severe form of ALD and accounts for 30-40% of ALD
- Symptoms typically appear during the ages of 3 to 15. CALD involves a breakdown of the protective sheath of the nerve cells in the brain that are responsible for thinking and muscle control
- Symptoms progress rapidly if untreated, and can cause a vegetative state ultimately leading to death
- Affects 1 in 20,000 male births worldwide
- Prognosis in childhood cerebral ALD is poor due to the progressive neurological deterioration, death usually occurs within 1 to 10 years of symptoms beginning
- Adult onset ALD (AMN) typically progresses slower over decades
How Do You Get It?
- The genetic mutation is found on the X chromosome, therefore it affects mainly men
- Women can be affected too but their symptoms are much milder, they typically do not develop the brain disease itself
- The adult form of ALD is called Adrenomyeloneuropathy (AMN) and symptoms begin to develop in 20s-30s
- Female ALD symptoms generally do not develop until after age 35
- In the most common form, symptoms begin between ages 3 and 15
What Are The Symptoms?
- Nearly all patients who suffer from ALD will have progressive dysfunction of the adrenal gland known as Addison’s disease
- In the childhood form of ALD (CALD) symptoms typically begin with behavioral changes between the ages of 3 and 15, and can include:
- Poor memory
- Poor performance in school
- Learning disabilities
- Withdrawn personality
- Other symptoms to look for:
- Vision loss
- Disturbance in gait and coordination
- Difficulty swallowing
- The milder, adult onset form of ALD (AMN), symptoms begin between the ages of 21 and 35 with:
- Progressive stiffness
- Weakness or paralysis of lower limbs
How Is It Treated?
- Supportive treatments for symptoms include physical therapy and psychological support
- Adrenal function must be tested regularly and adrenal hormone treatments can be life saving
- Recent studies show that Lorenzo’s Oil may be effective in delaying or preventing the symptoms of CALD if treated before symptoms begin
- Currently, the only treatment option known to halt progression of the disease is allogeneic hematopoietic stem cell transplant (HSCT) or bone marrow transplant, done only in the childhood form of ALD (CALD)