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Topic Review
Early-onset Primary Dystonia
Early-onset primary dystonia is a condition characterized by progressive problems with movement, typically beginning in childhood. Dystonia is a movement disorder that involves involuntary tensing of the muscles (muscle contractions), twisting of specific body parts such as an arm or a leg, rhythmic shaking (tremors), and other uncontrolled movements. A primary dystonia is one that occurs without other neurological symptoms, such as seizures or a loss of intellectual function (dementia). Early-onset primary dystonia does not affect a person's intelligence.
  • 706
  • 25 Dec 2020
Topic Review
MESP2 Gene
mesoderm posterior bHLH transcription factor 2
  • 706
  • 22 Dec 2020
Topic Review
MEN1 Gene
menin 1
  • 705
  • 22 Dec 2020
Topic Review
Neuropathy, Ataxia, and Retinitis Pigmentosa
Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms that mainly affect the nervous system.
  • 705
  • 24 Dec 2020
Topic Review
Choroideremia
Choroideremia is a condition characterized by progressive vision loss that mainly affects males.
  • 705
  • 24 Dec 2020
Topic Review
ETHE1 Gene
ETHE1, persulfide dioxygenase
  • 705
  • 24 Dec 2020
Topic Review
Carbamoyl Phosphate Synthetase I Deficiency
Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The brain is especially sensitive to the effects of excess ammonia.
  • 704
  • 24 Dec 2020
Topic Review
SLC26A2 Gene
solute carrier family 26 member 2
  • 704
  • 04 Apr 2021
Topic Review
SLC6A3 Gene
solute carrier family 6 member 3
  • 704
  • 24 Dec 2020
Topic Review
Atypical Femoral Fractures Related to Bisphosphonate Treatment
Atypical femoral fractures (AFF) are rare fragility fractures in the subtrocantheric or diaphysis femoral region associated with long-term bisphosphonate (BP) treatment. The etiology of AFF is still unclear even though a genetic basis is suggested. 
  • 704
  • 07 Feb 2022
Topic Review
Genomic Instability Evolutionary Footprints on Human Health
Genomic instability comprises not only the accumulation of mutations but also telomeric shortening, epigenetic alterations and other mechanisms that could contribute to genomic information conservation or corruption. 
  • 704
  • 30 Aug 2023
Topic Review
Thiamine-responsive Megaloblastic Anemia Syndrome
Thiamine-responsive megaloblastic anemia syndrome is a rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia.  
  • 703
  • 23 Dec 2020
Topic Review
CDH23 Gene
cadherin related 23
  • 703
  • 24 Dec 2020
Topic Review
Hyperphosphatemic Familial Tumoral Calcinosis
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in the body's tissues.
  • 703
  • 23 Dec 2020
Topic Review
KCNQ3 Gene
Potassium voltage-gated channel subfamily Q member 3
  • 703
  • 23 Dec 2020
Topic Review
HFE Gene
Homeostatic iron regulator
  • 702
  • 22 Dec 2020
Topic Review
WDR35 Gene
WD repeat domain 35.
  • 702
  • 24 Dec 2020
Topic Review
CLCNKB Gene
chloride voltage-gated channel Kb
  • 702
  • 24 Dec 2020
Topic Review
SCNN1G Gene
sodium channel epithelial 1 gamma subunit
  • 702
  • 24 Dec 2020
Topic Review
Sandhoff Disease
Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.
  • 702
  • 24 Dec 2020
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