Adrenoleukodystrophy: Schilder's disease; Sudanophilic Leukodystrophy

Adrenoleukodystrophy (ALD) is a life threatening genetic disorder which only occurs in males and affects the adrenal gland and white matter of the nervous system. It is caused by the accumulation of long chain fatty acids in the cells and tissues of an affected child. ALD was first recognised in 1923 and since then several hundred cases have been reported from many countries.

There are several forms of ALD. In the severe (childhood cerebral) form, boys usually develop normally until they reach between the ages of four to ten years of age when behavioural changes, such as loss of memory and emotional instability, may be experienced in varying degrees. There may also be difficulty with vision, hearing and motor function. Adrenal function may also be impaired (Addison disease) leading to nausea, vomiting, and changes in skin colour. Addison disease is commonly associated with gonadotrophin deficiency and may present with failure to enter puberty. There is continuous progressive deterioration of the nervous system. The rate of deterioration varies in each individual child.

A milder form of this illness, called adrenomyeloneuropathy (AMN) also occurs in males during late adolescence, or early adult life. It is usually characterised by adrenal impairment, immature sex organ development and varying degrees of difficulty with walking and motor function.

Symptoms of ALD are occasionally seen in female carriers. The vast majority have mild symptoms. Very rarely cerebral ALD has been described.

The only form of treatment that has been shown to be effective in early cerebral ALD is bone marrow transplantation, but it is ineffective in advanced disease. Lorenzo's oil has been widely used but its effectiveness remains unknown.

Inheritance patterns
X-Linked recessive

Prenatal diagnosis
Amniocentesis is available to carrier women only

Medical text written May 1994 by Dr R Schwarz, Consultant Paediatrician, Central Middlesex Hospital, London UK. Last updated April 2004 by Dr A Velodi, Consultant Paediatrician and Honorary Senior Lecturer, Metabolic Unit, Great Ormond Street Hospital, London, UK.

Further Online Resources
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.

ALD FAMILY SUPPORT TRUST

ALD Family Support Trust
4 Morley House
320 Regent Street
London
W1B 3BB
Tel/Fax: 020 7631 3336
e-mail: info@aldfst.org.uk
Web: http://www.aldfst.org.uk

The Trust is a National Registered Charity No. 1024690, established in 1993. It offers support by telephone and letter and links families where possible. It has information available, details on request. The Trust has 200 family members with around 270 affected children.

Group details last updated September 2006.

ALD Life
PO BOX 43642
London SE22 0XR
Tel: 020 8473 7493
e-mail: info@aldlife.org
Web: http://www.aldlife.org

ALD Life is a National Registered Charity No.1106008, established in 2001. It offers support, practical advice and networking opportunities both nationally and internationally. It funds research and provides grants to families and individuals for bereavement, support during bone marrow transplant and specialised equipment not available elsewhere. There is a quarterly newsletter and linking wherever possible. The group is in touch with 150 families, approximately 70 of them in the UK. ALD Life have also now opened a charity shop in Penge, London SE20 to further their fundraising.

Group details last updated July 2007.