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Adrenomyelo

Adrenal insufficiency

The two major forms are cerebral adrenoleukodystrophy (50% of cases; early childhood manifestation; rapid progression) and adrenomyelo-neuropathy (35% of cases; onset in early adulthood; slow progression) with restriction of demyelination to spinal cord and peripheral nerves. 16 Adrenal insufficiency can ...

Current and Future Pharmacological Treatment Strategies in ...

Abstract Mutations in the ABCD1 gene cause the clinical spectrum of theneurometabolic disorder X-linkedadrenoleukodystrophy/adrenomyelo neuropathy (X-ALD/AMN).

101796 Adrenal Insufficiency

CURRENT CONCEPTS Volume 335 Number 16 * 1211 In patients with primary adrenal insufficiency caused by autoimmune adrenalitis or adrenomyelo-neuropathy, imaging of the adrenal glands is not necessary.

Clinical Update 2010

Depending on results further work-up may be warranted, including imaging (chest x-ray - tuberculosis, MRI pituitary - pituitary tumour, CT adrenals - haemorrhage, infiltration) or further lab tests (adrenal antibodies - AOS, VLCFA - adrenoleukodystrophy/adrenomyelo neuropathy).

Hereditary Spastic Paraplegias

Leukodystrophies, such as adrenomyelo-neuropathy, metachromatic leukodystrophy, Pelizaeus-Merzbacher disease (etc.) can present with lower limb spasticity as part of a more complex neurological phenotype.

Double Trouble in Hereditary Neuropathy

... PMP-22 duplication and amis-sense mutation int he GJB1 (Connexin-32)gene;(2)a32-year-old woman havinga PMP-22 duplication and a1000-foldCTGrepeat expansion in the DMPK gene (DM1 myotonic dystrophy); and (3) a 39-year-old man witha PMP-22 deletion and a missense mutation in the ABCD1 gene (adrenomyelo ...

jnnp.bmj.com

and adrenal insufficiency.25 In adrenomyelo-neuropathy a possible disorder of sterol metabolism involves the nervous system and the steTroid-synthesising adrenol cortex.26 In our

Evidence-based health care November 2002

GC Korenke et al. Glyceroltrioleate/glyceroltrierucate therapy in 16 patients with x-chromosomal adrenoleukodystrophy/adrenomyelo neuropathy: effect on clinical, biochemical and neurophysiological parameters.

SOZIALGERICHTAURICH

Der1953geborene, beiderBeklagtenversicherteKlägerleidetan einer Adrenomyelo-neuropathie (AMN). Dabeihandeltessich um eineseltenegenetischbedingte Stoff-wechselerkran kung, dieeinengestörtenAbbausehrlangkettiger FettsäurenzurFolge hat, wodurcheszuSchädigungendes Blutplasmas, des ...

Farmacia Hospitalaria, Vol. 20, Num. 1, Págs. 1-7

We report a patient with adrenomyelo-neuropathy treated with Lorenzo's oil, and update these conditions and the different treatments, emphasizing the efficacy and safety of Lorenzo's oil.