ALD.

Also known as

  • Adrenoleukodystrophy
  • X linked ALD
  • Adrenomyeloneuropathy
  • Bronze Schilder Adrenal Disease.

ALD is caused by a genetic fault that means those affected are unable to process Very Long Chain Fatty Acids (VLCFAs).These VLCFAs accumulate and destroy the myelin sheath that covers the nerves in the body and brain. Leading to brain damage and death.

Condition details

Adrenoleukodystrophy (ALD) caused by a genetic fault that means those affected are unable to process Very Long Chain Fatty Acids (VLCFAs). It is thought that these VLCFAs accumulate and destroy the myelin sheath that covers the nerves in the body and brain. The myelin acts like the coating around an electric cable, and allows messages to be transmitted along nerve cells. In cerebral ALD the damage to myelin happens in the brain. When the myelin is damaged the nerves in the brain cannot work properly, and the person’s physical and mental abilities begin to deteriorate. Functions such as reasoning, speech and mobility are lost. Eventually, they become profoundly disabled.

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Photos of affected individuals

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Typical age range of first manifestation

  • Does not manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Baby
Lay terms Clinical terms
  • Babies do not usually present any symptoms and develop normally
  • as symptoms only present themselves when there has been a build up of VLCFA's
Toddler
Lay terms Clinical terms
  • Toddlers can sometimes show early symptoms like hair thinning
  • tanning easily
  • sensitive skin.
Child 4-10
Lay terms Clinical terms
  • Behavioural problems
  • sensitive skin
  • tan easily
  • bronze skin
  • thinning hair
  • muscle spasms seizures trouble swallowing impaired hearing trouble with language comprehension impaired vision
  • blindness
  • hyperactivity paralysis coma deterioration of fine motor control adrenal insufficiency
  • In the early stages of ALD children may present with only one or two symptoms. The most common being behavioural problems or hyperactivity
  • adhd
  • sensitive skin
  • tanning easily
  • bronze skin
  • thinning hair. These can be attributed to individual illnesses in themselves
  • but should not be overlooked. If ALD is diagnosed before it affects the brain
  • the disease may be halted with a bone marrow transplant.
Child 10-18
Lay terms Clinical terms
  • Boys with X linked ALD can present some if not all of these symptoms: Muscle spasms
  • seizures
  • trouble swallowing
  • loss of hearing
  • trouble with language comprehension
  • impaired vision or blindness
  • hyperactivity
  • paralysis
  • coma
  • deterioration of fine motor control
  • loss of motor control
  • thinning hair
  • nightmares
  • adrenal insufficiency
  • scoliosis
  • profound disability
  • adrenal insufficiency
  • double incontinence.
  • ALD patients will present with the childhood cerebral form of the disease
  • which is the most severe form. It is characterized by normal development in early childhood
  • followed by rapid degeneration to a vegetative state. However with some patients the degeneration is slower
  • or they will only go on to develop some symptoms.
Adult
Lay terms Clinical terms
  • The prognosis for ALD boys to reach adulthood varies.The average time between the initial symptoms and a vegetative state (where the patient is bedridden) or death is approximately 2 years
  • although it can range anywhere from 6 months to 20 years.
  • This is a terminal illness.

Affected genes identified to date

  • The gene at fault in ALD is called ABCD1.

Inheritance patterns

Is X-linked

Female carriers have a 50-50 chance of having a symptomatic son or a carrier daughter.

Are carriers affected?

Yes, adult males can develop AMN. Adrenomyeloneuropathy is caused by mutations in the ABCD1 gene. AMN most often appears in in adult men. Women can also get AMN, but the condition is usually less severe than in men.

How many are affected?

1 in 20.000

Support groups and organisations

Mrs Karen Harrison
ALD Life
45 Peckham High Street
London
SE15 5EB
England
Tel 02077014388
Facebook

Known experts

Dr Robin Lachmann
Field of interestConsultant in Metabolic Medicine
The National Hospital for Neurology and Neurosurgery
33 Queens Square
Holborn
London
WC1N 3BG
England
Tel 0845 155 5000
Facebook
Dr Colin Steward
Field of interestConsultant in BMT, Genetic and Metabolic diseases
Bristol Royal Hospital for Children
Paul O'Gorman Building
Upper Maudlin Street,
Bristol
BS2 8BJ
England
Tel 0117 342 8460
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