X-linked adrenoleukodystrophy in heterozygous female patients: women are not just carriers.

[x-linked adrenoleukodystrophy]

X-linked adrenoleukodystrophy (X-ALD ) is a recessive X-linked disorder associated with marked phenotypic variability . Female carriers are commonly thought to be normal or only mildly affected , but their disease still needs to be better described and systematized .To review and systematize the clinical features of heterozygous women followed in a Neurogenetics Clinic .We reviewed the clinical , biochemical , and neuroradiological data of all women known to have X-ADL .The nine women identified were classified into three groups : with severe and aggressive diseases ; with slowly progressive , spastic paraplegia ; and with mildly decreased vibratory sensation , brisk reflexes , and no complaints . Many of these women did not have a known family history of X-ALD .Heterozygous women with X-ADL have a wide spectrum of clinical manifestations , ranging from mild to severe phenotypes .

Diseases
Validation

Diseases presenting "wide spectrum" symptom

22q11.2 deletion syndrome

acute rheumatic fever

adrenal incidentaloma

adrenomyeloneuropathy

alexander disease

allergic bronchopulmonary aspergillosis

canavan disease

classical phenylketonuria

focal myositis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

krabbe disease

lamellar ichthyosis

monosomy 21

neonatal adrenoleukodystrophy

oligodontia

primary hyperoxaluria type 1

proteus syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

You can validate or delete this automatically detected symptom