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Results: 1 to 20 of 70

1.

Ataxia

unable to coordinate muscle movement [from CHV]

MedGen UID:
13945
Concept ID:
C0004134
Sign or Symptom
2.

Friedreich's ataxia

Friedreich's ataxia is an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs. Symptoms usually begin between the ages of 5 and 15. The main symptom is ataxia, which means trouble coordinating movements. Specific symptoms include: -Difficulty walking. - Muscle weakness. - Speech problems. - Involuntary eye movements. - Scoliosis (curving of the spine to one side). - Heart palpitations, from the heart disease which can happen along with Friedreich's ataxia. People with Friedreich's ataxia usually need a wheelchair 15 to 20 years after symptoms first appear. In severe cases, people become incapacitated. There is no cure. You can treat symptoms with medicines, braces, surgery, and physical therapy. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
5276
Concept ID:
C0016719
Disease or Syndrome
3.

Ataxia

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). [from HPO]

MedGen UID:
504767
Concept ID:
CN001146
Finding
4.

Ataxia

MedGen UID:
472353
Concept ID:
C1135207
Pathologic Function
5.

Friedreich ataxia 1

Friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with mean onset between age ten and 15 years and usually before age 25 years. FRDA is typically associated with dysarthria, muscle weakness, spasticity in the lower limbs, scoliosis, bladder dysfunction, absent lower limb reflexes, and loss of position and vibration sense. Approximately two thirds of individuals with FRDA have cardiomyopathy; up to 30% have diabetes mellitus; and approximately 25% have an "atypical" presentation with later onset or retained tendon reflexes. [from GeneReviews]

MedGen UID:
383962
Concept ID:
C1856689
Disease or Syndrome
6.

Iron

Iron is a mineral that our bodies need for many functions. The body needs iron to make the proteins hemoglobin and myoglobin. Hemoglobin is found in red blood cells and myoglobin is found in muscles. They help carry and store oxygen in the body. Iron is also part of many other proteins and enzymes in the body. Your body needs the right amount of iron. If you have too little iron, you may develop iron deficiency anemia. Causes of low iron levels include blood loss, poor diet, or an inability to absorb enough iron from foods. Too much iron is toxic to your body. Taking too many iron supplements can cause iron poisoning. Some people have an inherited disease called hemochromatosis. It causes too much iron to build up in the body. .  [from MedlinePlus]

MedGen UID:
137068
Concept ID:
C0302583
Pharmacologic Substance
7.

Aminobutyric Acid

MedGen UID:
113108
Concept ID:
C0220780
Pharmacologic Substance
8.

Trinucleotide Repeat Expansion

An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs. [from MeSH]

MedGen UID:
99831
Concept ID:
C0524894
Cell or Molecular Dysfunction
9.

Atrophy

Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. [from MeSH]

MedGen UID:
83084
Concept ID:
C0333641
Pathologic Function
10.

Sulfur

a kind of isotope [from CHV]

MedGen UID:
11653
Concept ID:
C0038774
Pharmacologic Substance
11.

Electron transfer

The process by which ELECTRONS are transported from a reduced substrate to molecular OXYGEN. (From Bennington, Saunders Dictionary and Encyclopedia of Laboratory Medicine and Technology, 1984, p270) [from MeSH]

MedGen UID:
4000
Concept ID:
C0013846
Molecular Function
12.

Hypoplasia

Incomplete or arrested development of an organ or a part [from CHV]

MedGen UID:
537146
Concept ID:
C0243069
Pathologic Function
13.

Peripheral neuropathy

Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. [from HPO]

MedGen UID:
506330
Concept ID:
CN008687
Finding
14.

Mitochondrial inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). [from HPO]

MedGen UID:
504838
Concept ID:
CN001305
Finding
15.

Pathogenesis

specific processes that generate the ability of an organism to cause disease [from CHV]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
16.

Neuropathy

nervous system disorder [from CHV]

MedGen UID:
141046
Concept ID:
C0442874
Disease or Syndrome
17.

Autosomal recessive inheritance

Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity). [from NCI]

MedGen UID:
141025
Concept ID:
C0441748
18.

Lesion

An area of abnormal tissue. A lesion may be benign (not cancer) or malignant (cancer). [from NCI]

MedGen UID:
65128
Concept ID:
C0221198
Finding
19.

Chronic granulomatous disease

A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. [from MeSH]

MedGen UID:
5377
Concept ID:
C0018203
Disease or Syndrome
20.

Tissue Degeneration

MedGen UID:
3705
Concept ID:
C0011164
Pathologic Function

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