Valid for Submission
E71.522 is a billable diagnosis code used to specify a medical diagnosis of adrenomyeloneuropathy. The code E71.522 is valid during the fiscal year 2022 from October 01, 2021 through September 30, 2022 for the submission of HIPAA-covered transactions.
Index to Diseases and Injuries
The Index to Diseases and Injuries is an alphabetical listing of medical terms, with each term mapped to one or more ICD-10 code(s). The following references for the code E71.522 are found in the index:
- - Adrenomyeloneuropathy - E71.522
- ADRENOLEUKODYSTROPHY-. an x linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the lysosomes of adrenal cortex and the white matter of central nervous system. this disease occurs almost exclusively in the males. clinical features include the childhood onset of ataxia; neurobehavioral manifestations; hyperpigmentation; adrenal insufficiency; seizures; muscle spasticity; and dementia. the slowly progressive adult form is called adrenomyeloneuropathy. the defective gene abcd1 is located at xq28 and encodes the adrenoleukodystrophy protein atp binding cassette transporters.
Convert E71.522 to ICD-9 Code
The General Equivalency Mapping (GEM) crosswalk indicates an approximate mapping between the ICD-10 code E71.522 its ICD-9 equivalent. The approximate mapping means there is not an exact match between the ICD-10 code and the ICD-9 code and the mapped code is not a precise representation of the original code.
Information for Patients
What are leukodystrophies?
Leukodystrophies are a group of rare genetic disorders that affect the central nervous system (CNS). The CNS is made up of your brain and spinal cord. Leukodystrophies damage the white matter of your CNS. The white matter includes
- Nerve fibers, also called axons, which connect your nerve cells
- Myelin, a layer of proteins and fatty materials that covers and protects the nerve fibers. It also helps speed up signals between the nerve cells.
When the white matter is damaged, it can slow down or block the signals between nerve cells. This can cause many different symptoms, including trouble with movement, vision, hearing, and thinking.
There are over 50 types of leukodystrophies. Some types are present at birth, while others may not cause symptoms until a child becomes a toddler. A few types mainly affect adults. Most types get worse over time.
What causes leukodystrophies?
Leukodystrophies are caused by genetic changes. These changes are usually inherited, meaning that they are passed from parent to child.
What are the symptoms of leukodystrophies?
The symptoms of leukodystrophies depend on the type; they can include a gradual loss of
- Muscle tone
- balance and mobility
- Ability to eat
There can also be other symptoms, such as
- Learning disabilities
- bladder issues
- Breathing problems
- Developmental disabilities
- Muscle control disorders
How are leukodystrophies diagnosed?
Leukodystrophies can be hard to diagnose because there are so many different types which can have different symptoms. Your health care provider may use many tools to make a diagnosis:
- Physical and neurological exams
- A medical history, including asking about family history
- Imaging tests, such as an MRI or CT scan
- Genetic testing to look for genetic changes that could cause leukodystrophies
- Lab tests
What are the treatments for leukodystrophies?
There is no cure for leukodystrophies. Treatment focuses on relieving symptoms and providing support. It may include
- Medicines to manage muscle tone, seizures, and spasticity (muscle stiffness)
- Physical, occupational, and speech therapies to improve mobility, function, and cognitive problems
- Nutritional therapy for eating and swallowing problems
- Educational and recreational programs
Stem cell or bone marrow transplantation can be helpful for a few types of leukodystrophy.
One type of leukodystrophy, CTX, is treatable if it is diagnosed early. It is treated with chenodeoxycholic acid (CDCA) replacement therapy.
NIH: National Institute of Neurological Disorders and Stroke
[Learn More in MedlinePlus]
X-linked adrenoleukodystrophy is a genetic disorder that mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. In this disorder, the fatty covering (myelin) that insulates nerves in the brain and spinal cord tends to deteriorate (a condition called demyelination). The loss of myelin reduces the ability of the nerves to relay information to the brain. In addition, damage to the outer layer of the adrenal glands (adrenal cortex) causes a shortage of certain hormones (adrenocortical insufficiency). Adrenocortical insufficiency may cause weakness, weight loss, skin changes, vomiting, and coma.
There are four distinct types of X-linked adrenoleukodystrophy: a childhood cerebral form, an adrenomyeloneuropathy type, an adrenal insufficiency only form, and a type called asymptomatic.
The childhood cerebral form of X-linked adrenoleukodystrophy typically occurs in boys because girls are rarely affected with this type. If not treated, affected boys experience learning and behavioral problems that usually begin between the ages of 4 and 10. Over time the symptoms can worsen, and these children may have difficulty reading, writing, understanding speech, and comprehending written material. Additional signs and symptoms of the cerebral form include aggressive behavior, vision problems, difficulty swallowing, poor coordination, and impaired adrenal gland function. The rate at which this disorder progresses is variable but can be extremely rapid, often leading to total disability within a few years. The life expectancy of individuals with this type depends on whether early diagnosis and treatment are available. Without treatment, individuals with the cerebral form of X-linked adrenoleukodystrophy usually survive only a few years after symptoms begin.
Signs and symptoms of the adrenomyeloneuropathy type appear between early adulthood and middle age. Affected individuals develop progressive stiffness and weakness in their legs (paraparesis), experience urinary and genital tract disorders, and often show changes in behavior and thinking ability. Most people with the adrenomyeloneuropathy type also have adrenocortical insufficiency. In some severely affected individuals, damage to the brain and nervous system can lead to early death.
People with X-linked adrenoleukodystrophy whose only symptom is adrenocortical insufficiency are said to have the adrenal insufficiency only form. In these individuals, adrenocortical insufficiency can begin anytime between childhood and adulthood. However, most affected individuals develop the additional features of the adrenomyeloneuropathy type by the time they reach middle age. The life expectancy of individuals with this form depends on the severity of the signs and symptoms, but typically this is the mildest of the three types.
Children with the asymptomatic form do not appear to have any symptoms of the condition, but medical testing may show brain or biochemical abnormalities. Some individuals with the asymptomatic form may develop features of other types of X-linked adrenoleukodystrophy later in life.
Rarely, individuals with X-linked adrenoleukodystrophy develop multiple features of the disorder in adolescence or early adulthood. In addition to adrenocortical insufficiency, these individuals usually have psychiatric disorders and a loss of intellectual function (dementia). It is unclear whether these individuals have a distinct form of the condition or a variation of one of the previously described types.
For reasons that are unclear, different forms of X-linked adrenoleukodystrophy can be seen in affected individuals within the same family.
[Learn More in MedlinePlus]