Adrenomyeloneuropathy Details

Expanded Description

Adrenomyeloneuropathy (AMN) is a rare inherited metabolic disorder that is a form of Adrenoleukodystrophy, which most often occurs in young men. Women are often referred to merely as “carriers”, but some have severe effects, including loss of mobility, incontinence, loss of balance, etc.

Adrenomyeloneuropathy is characterized by the loss of the fatty covering (myelin sheath) on nerve fibers within the brain (cerebral demyelination) and the progressive degeneration of the adrenal gland (adrenal atrophy). Neurological disability in Adrenomyeloneuropathy is slowly progressive over several decades. Adrenomyeloneuropathy interests the wider neurologic community because of its similarities to Multiple Sclerosis (MS).

Prevalence

5.0 ( Per 100,000 Population ) [Source]

Causes

Adrenomyeloneuropathy is an inherited metabolic disorder.

Disorder Symptoms

There are a number of symptoms that affect people with Adrenomyeloneuropathy. The average age at which symptoms first appear is 28, but onset can occur anywhere from the second to the fifth decades of life.

Name	Description
Weakness and Stiffness	Gradual, progressive weakness and stiffness of the legs
Weight Loss	Weight Loss
Excessive Muscle Tone	Excessive Muscle Tone
Difficulty Walking	Difficulty Walking
Visual Defects	Visual Defects
Difficulty in Articulating Words	Difficulty in Articulating Words
Behavioral Changes	Behavioral Changes
Adrenal Insufficiency	Adrenal Insufficiency
Seizures	Seizures
Impotence	Impotence
Bladder Dysfunction	Bladder Dysfunction
Mild Peripheral Neuropathy	Mild Peripheral Neuropathy
Nausea	Nausea
Ataxia	Loss of the ability to coordinate muscle movement
Muscular atrophy	Atrophy of the limb muscles occur over a period of time
Lower back pain	Lower back pain

Diagnosis

AMN is usually diagnosed in, but not limited to, young men who display weakness and numbness of the limbs and urination or defecation problems. Women may be asymptomatic or may, like men, have problems with mobility and bladder and bowel control.

For doctors to establish proper diagnosis, blood tests must be taken to examine the levels of serum long chain fatty acid. In addition, MRI examination can reveal white matter abnormalities and neuroimaging findings of this disease are very similar to findings of Multiple Sclerosis.

Diagnostic Tests

No diagnostic test information has been added yet.

We don't have any tests yet.

Disorder Treatments

Currently there is no cure for AMN; however, there are some dietary treatments that patients are using to help alleviate some of the symptoms of the disease.

Patients also sometimes take a treatment consisting of a mixture of glycerol trioleate and glycerol trierucate, more commonly referred to as Lorenzo’s Oil. This treatment is considered experimental by the FDA and can cost approximately $440 per month. Because of its experimental status, most insurance companies will not cover this treatment.

One biotechnology company working to develop a treatment for AMN is ReceptoPharm, Inc., a subsidiary of Nutra Pharma Corporation. This treatment just completed its Phase IIb/IIIa clinical trial in London, England.

Name
RPI-78M
Gene Therapy

Prognosis

Prognosis varies from patient to patient. Some have only mild symptoms; others are wheelchair bound and suffer impotence as well as loss of bladder and bowel control. As noted above, those with cerebral involvement are more seriously affected and eventually die from the condition.

Tips for Living with the Disorder

We don't have any tips yet.