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

High blood level of Very Long Chain Fatty Acids.

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

Name Description
roy2good

Stay indoors and away from crowds especially during cold and flu seasons. Besides that, get things right with God, try to understand why you are ‘lucky’ to have this conditon. Enjoy life for as long as you have it! Don’t complain people don’t want to hear complaints! When things seem all out of control and you are at your worst, go to bed and try again the next day! Keep positive mentally and verbally!

Arod

I’ve been living with this condition since 2001. Keep positive, stays as active as you can, & just enjoy live with family and friends.

MissSheryl

I participated in a study of Lorenzo’s Oil at Hopkins Kennedy Kreiger Center in Baltimore. The purpose was to determine if Lorenzo’s Oil had any benefit for women with AMN. The study was terminated after 2 years when no benefit was found in any of the study particpants. Further more, some participants displayed negative reations. For AMN, Lorenzo’s Oil appears to be a dead end, at least for women with AMN.

Sheryl

Become a Member

It’s free and easy to join RareShare. Click here to signup for an account.

Zellweger Syndrome

Recently Updated Communities

Systemic Capillary Leak Syndrome
1 day ago

Syringomyelia
3 days ago

Adrenomyeloneuropathy
10 days ago

Radioulnar Synostosis
10 days ago

Mixed Connective Tissue Disease
12 days ago

FAQ

Have questions about RareShare?

Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.