Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Back pain is a frequent complaint seen in neurological practice. In evaluating back pain, neurologists are asked to evaluate patients for radiculopathy, determine whether they may benefit from surgery, and help guide management. Although disc herniation is the most common etiology of compressive radiculopathy, there are many other causes, including genetic disorders. This article is a discussion of genetic disorders that cause or contribute to radiculopathies. These genetic disorders include neurofibromatosis, Paget's disease of bone, and ankylosing spondylitis. Numerous genetic disorders can also lead to deformities of the spine, including spinal muscular atrophy, Friedreich's ataxia, Charcot-Marie-Tooth disease, familial dysautonomia, idiopathic torsional dystonia, Marfan's syndrome, and Ehlers-Danlos syndrome. However, the extent of radiculopathy caused by spine deformities is essentially absent from the literature. Finally, recent investigation into the heritability of disc degeneration and lumbar disc herniation suggests a significant genetic component in the etiology of lumbar disc disease.
 ...
PMID:Genetic disorders producing compressive radiculopathy. 1704 53

Bilateral basal ganglia lesions are a common non-specific finding seen in many diseases. One of the differential diagnoses for it, in a child, is kernicterus occurring due to hyperbilirubinemia. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common cause of severe hyperbilirubinemia. A 1-year old child presented to the hospital with history of generalized dystonia in the previous 3 days. MRI showed evidence of symmetrical lesions in bilateral globus pallidus, which were hyperintense on T2/FLAIR and isointense on T1. Patient's blood test revealed G6PD deficiency. Hence, a diagnosis of G6PD deficiency leading to kernicterus was made. In a child, the diseases that may affect the basal ganglia symmetrically and bilaterally include kernicterus, hypoxia, carbon monoxide poisoning, hypoglycemia, inherited metabolic and dysmyelinating disorders like Leigh disorder, Canavan and Krabbe, Neurofibromatosis, Herpes encephalitis, congenital HIV infection, manganese poisoning and extrapontine myelinolysis. Important causes of kernicterus are Rh incompatibility, ABO incompatibility, sepsis, hemolytic anaemia and G6PD deficiency. G6PD deficiency leading to kernicterus should be considered a differential diagnosis of bilateral basal ganglia lesions in children. Proper elicitation of history with appropriate blood biochemical tests will help in arriving at a proper diagnosis.
 ...
PMID:B/L Basal Ganglia Lesions in a Child Leading to a Diagnosis of Glucose-6-Phosphate Dehydrogenase Deficiency. 2988 84