International Encyclopedia of Rehabilitation


Association française contre l'adrénoleucodystrophie (AFCA)

What is adrenoleukodystrophy (ALD)?

Adrenoleukodystrophy is an inherited, progressive neurological disease that was first described in the beginning of the 20th century (by Schilder in 1912, then Siemerling and Creutzfeld in 1923). Blaw described this metabolic disorder (dystrophy) of the nervous system's white matter (leuko), and introduced the name 'adrenoleukodystrophy' in 1970. This disease is one of the most common degenerative diseases of the central nervous system (brain and/or spinal cord). The incidence is approximately 1 out of 12,000 births. ALD is a genetic, X-linked condition passed from mother to son.

What are the clinical signs of ALD?

This condition encompasses different onsets among which the most common are:

Infantile-onset ALD: it starts at around the age of 7 years, with behavioral disorders and leads to full paralysis with incontinence, speech, vision, and swallowing disorders: only mushy food can be eaten to prevent frequent food choking (food 'gone down the wrong way'), liquids are extremely difficult to swallow; a naso gastric tube (a tube passed down into the stomach through the nose) may be required for feeding. Against all appearances, hearing function is preserved and young patients can often hear and understand what is being said; it is therefore, important to pay attention to what we say.

Adult-onset ALD: spinal cord disorder akin to multiple sclerosis (adrenomyeloneuropathy: AMN) or cerebral disorder.

Diagnosis is obtained through the evaluation of collected blood sample (long-chain fatty acid determination).

What are the recommended treatments?

Preventive dietary regimes are being currently studied; also bone marrow transplantation. The responsible gene for ALD was identified and holds a future possibility for gene therapy.

For more information


AFCA: Association Française Contre l'Adrénoleucodystrophie, 11 hameau Saint-Jean, 13080 Luynes.

ELA: Association Européenne Contre les Leucodystrophies [European Leukodystrophy Association], 6 rue Pasteur, B.P. 267, 54005 Nancy Cedex


Association des paralysés de France. 1996. Déficiences motrices et handicaps, Aspects sociaux, psychologiques, médicaux, techniques et législatifs, troubles associés. Paris : Association des paralysés de France. 505 p. Used with permission.

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