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1.

Adrenoleukodystrophy

X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and the adrenal cortex. Three main phenotypes are seen in affected males: The childhood cerebral form manifests most commonly between ages four and eight years. It initially resembles attention deficit disorder or hyperactivity; progressive impairment of cognition, behavior, vision, hearing, and motor function follow the initial symptoms and often lead to total disability within two years. Adrenomyeloneuropathy (AMN) manifests most commonly in the late twenties as progressive paraparesis, sphincter disturbances, sexual dysfunction, and often, impaired adrenocortical function; all symptoms are progressive over decades. "Addison disease only" presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly AMN) usually develops later. Approximately 20% of females who are carriers develop neurologic manifestations that resemble AMN but have later onset (age =35 years) and milder disease than do affected males. [from GeneReviews]

MedGen UID:
57667
Concept ID:
C0162309
Disease or Syndrome
2.

X-linked inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [from HPO]

MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
3.

Adrenomyeloneuropathy

MedGen UID:
315918
Concept ID:
C1527231
Disease or Syndrome
4.

Spastic

of relating to spasm [from CHV]

MedGen UID:
141050
Concept ID:
C0443306
Mental or Behavioral Dysfunction; Sign or Symptom
5.

Paraparesis

Weakness or partial paralysis in the lower limbs. [from HPO]

MedGen UID:
113150
Concept ID:
C0221166
Sign or Symptom
6.

Frequency

MedGen UID:
91210
Concept ID:
C0376249
Quantitative Concept
7.

Sclerosis

hardening of the tissue [from CHV]

MedGen UID:
48587
Concept ID:
C0036429
Pathologic Function
8.

Neurologic Manifestations

Clinical signs and symptoms caused by nervous system injury or dysfunction. [from MeSH]

MedGen UID:
18017
Concept ID:
C0027854
Finding
9.

Multiple sclerosis

Multiple sclerosis (MS) is a nervous system disease that affects your brain and spinal cord. It damages the myelin sheath, the material that surrounds and protects your nerve cells. This damage slows down or blocks messages between your brain and your body, leading to the symptoms of MS. They can include. -Visual disturbances. -Muscle weakness. -Trouble with coordination and balance. -Sensations such as numbness, prickling, or pins and needles . -Thinking and memory problems. No one knows what causes MS. It may be an autoimmune disease, which happens when your immune system attacks healthy cells in your body by mistake. Multiple sclerosis affects women more than men. It often begins between the ages of 20 and 40. Usually, the disease is mild, but some people lose the ability to write, speak, or walk. There is no single test for MS. Doctors use a medical history, physical exam, neurological exam, MRI, and other tests to diagnose it. There is no cure for MS, but medicines may slow it down and help control symptoms. Physical and occupational therapy may also help. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
10123
Concept ID:
C0026769
Disease or Syndrome
10.

Diagnosis

The process of identifying a disease, such as cancer, from its signs and symptoms. [from NCI]

MedGen UID:
8354
Concept ID:
C0011900
Finding
11.

Addison Disease

Your adrenal glands are just above your kidneys. The outside layer of these glands makes hormones that help your body respond to stress and regulate your blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make enough of these hormones. A problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, damaging your adrenal glands. Other causes include infections and cancer. Symptoms include. -Weight loss . -Muscle weakness . -Fatigue that gets worse over time . -Low blood pressure . -Patchy or dark skin . Lab tests can confirm that you have Addison disease. If you don't treat it, it can be fatal. You will need to take hormone pills for the rest of your life. If you have Addison disease, you should carry an emergency ID. It should say that you have the disease, list your medicines and say how much you need in an emergency. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
1324
Concept ID:
C0001403
Disease or Syndrome
12.

Neurologic

MedGen UID:
880863
Concept ID:
CN236425
Finding
13.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
14.

Addison disease

Addison disease (AD) is a chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking AD designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI; see this term). [from ORDO]

MedGen UID:
798977
Concept ID:
CN206116
Disease or Syndrome
15.

Newborn

MedGen UID:
745693
Concept ID:
C2239178
Finding
16.

Profound

Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
615266
Concept ID:
C0439808
Qualitative Concept
17.

Primary adrenal insufficiency

Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. [from HPO]

MedGen UID:
589758
Concept ID:
C0405580
Disease or Syndrome
18.

Attention deficit hyperactivity disorder

Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. [from HPO]

MedGen UID:
506017
Concept ID:
CN006126
Finding
19.

Adrenal gland agenesis

Absent development of the adrenal gland. [from HPO]

MedGen UID:
472999
Concept ID:
C0266273
Congenital Abnormality; Finding
20.

Multiple sclerosis susceptibility

Multiple sclerosis is a condition characterized by areas of damage (lesions) on the brain and spinal cord. These lesions are associated with destruction of the covering that protects nerves and promotes the efficient transmission of nerve impulses (the myelin sheath) and damage to nerve cells. Multiple sclerosis is considered an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs, in this case tissues of the nervous system.Multiple sclerosis usually begins in early adulthood, between ages 20 and 40. The symptoms vary widely, and affected individuals can experience one or more effects of nervous system damage. Multiple sclerosis often causes sensory disturbances in the limbs, including a prickling or tingling sensation (paresthesia), numbness, pain, and itching. Some people experience Lhermitte sign, which is an electrical shock-like sensation that runs down the back and into the limbs. This sensation usually occurs when the head is bent forward. Problems with muscle control are common in people with multiple sclerosis. Affected individuals may have tremors, muscle stiffness (spasticity), exaggerated reflexes (hyperreflexia), weakness or partial paralysis of the muscles of the limbs, difficulty walking, or poor bladder control. Multiple sclerosis is also associated with vision problems, such as blurred or double vision or partial or complete vision loss. Infections that cause fever can make the symptoms worse.There are several forms of multiple sclerosis: relapsing-remitting MS, secondary progressive MS, primary progressive MS, and progressive relapsing MS. The most common is the relapsing-remitting form, which affects approximately 80 percent of people with multiple sclerosis. Individuals with this form of the condition have periods during which they experience symptoms, called clinical attacks, followed by periods without any symptoms (remission). The triggers of clinical attacks and remissions are unknown. After about 10 years, relapsing-remitting MS usually develops into another form of the disorder called secondary progressive MS. In this form, there are no remissions, and symptoms of the condition continually worsen.Primary progressive MS is the next most common form, affecting approximately 10 to 20 percent of people with multiple sclerosis. This form is characterized by constant symptoms that worsen over time, with no clinical attacks or remissions. Primary progressive MS typically begins later than the other forms, around age 40.Progressive relapsing MS is a rare form of multiple sclerosis that initially appears like primary progressive MS, with constant symptoms. However, people with progressive relapsing MS also experience clinical attacks of more severe symptoms.
[from GHR]

MedGen UID:
429785
Concept ID:
CN031763
Disease or Syndrome
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