In the adult onset of the disease, symptoms typically are seen as early as 20 years old and then throughout adulthood. It includes spinal cord symptoms, as well as difficulty walking, muscle spasms, peripheral neuropathy (numbness or tingling in the feet and legs) and bladder or bowel symptoms. Although adult-onset ALD progresses more slowly than the classic childhood form, it can also result in deterioration of the brain function, which can be monitored by MRIs.
Adrenomyeloneuropathy
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Symptoms
Like all the categories of ALD, the symptoms of AMN can be quite variable. Below we have listed some of the symptoms that could be present, along with definitions, as necessary.
- Difficulty in walking/change in walking pattern: this is the most common initial symptom of patients with AMN
- Spastic paraparesis: gradual, progressive weakness and stiffness of the legs; in AMN this is often specific to the lower limbs
- Ataxia: loss of the ability to coordinate muscle movement
- Hypertonia: excessive muscle tone
- Visual defects
- Dysarthria: Difficulty in articulating words, caused by impairment of the muscles used in speech
- Seizures: sudden convulsions/attacks/spasms
Adrenal insufficiency: The adrenal glands are located above the kidneys, and are responsible for releasing certain hormones such as adrenaline and cortisol. These hormones are important in the control of blood pressure, heart rate, and sexual development and reproduction. In adrenal insufficiency, these hormones are not produced at the appropriate levels and so these processes are not properly controlled. Adrenal insufficiency occurs in approximately 70% of men with AMN.
- Sexual dysfunction/impotence – This may be related either to involvement of the spinal cord or the testes themselves. The latter is relatively uncommon. It can be diagnosed by measuring testosterone levels in plasma.
- Behavioral changes
- Bladder dysfunction
- Mild peripheral neuropathy
- Weight loss
- Nausea
Diagnosis
Adrenomyeloneuropathy (AMN) can be diagnosed by a simple blood test that analyzes the amount of very long chain fatty acids; the levels of these molecules are elevated in ALD. A DNA-based blood test is also available.
If the blood test suggests ALD, then generally an MRI will be performed in order to assess cerebral involvement. Additionally, the patient will be evaluated for adrenal insufficiency (by another blood test), as this is a common symptom of the disease that can be corrected.
Standard of Care
Currently there is no cure for AMN; however, there are some clinical and dietary treatments that patients are using to help alleviate some of the symptoms of the disease.
One of the possible symptoms of patients with AMN is adrenal insufficiency. The adrenal glands are located above the kidneys, and are responsible for releasing certain hormones such as adrenaline and cortisol. These hormones are important in the control of blood pressure, heart rate, and sexual development and reproduction. In adrenal insufficiency, these hormones are not produced at the appropriate levels and so these processes are not properly controlled. Adrenal insufficiency can be corrected by steroid replacement therapy, which generally will improve the quality of life of the patient. Failure to test for and treat adrenal insufficiency can lead to a fatal outcome. Only replacement dosage of steroids, which do not cause the side effects of “pharmacologic” doses, are required.
Adrenal insufficiency: The adrenal glands are located above the kidneys, and are responsible for releasing certain hormones such as adrenaline and cortisol. These hormones are important in the control of blood pressure, heart rate, and sexual development and reproduction. In adrenal insufficiency, these hormones are not produced at the appropriate levels and so these processes are not properly controlled. Adrenal insufficiency occurs in approximately 70% of men with AMN.
- Sexual dysfunction/impotence – This may be related either to involvement of the spinal cord or the testes themselves. The latter is relatively uncommon. It can be diagnosed by measuring testosterone levels in plasma.
- Behavioral changes
- Bladder dysfunction
- Mild peripheral neuropathy
- Weight loss
- Nausea