Frank A. Bassen M.D. "Retinitis Pigmentosa, Acanthocytosis, and Heredodegenerative Neuromuscular Disease. (wikipedia.org)
Congenital2
Bassen-Kornzweig disease, also called Bassen-Kornzweig Syndrome, is a rare congenital disorder in which the body fails to produce chylomicrons, a low density lipoprotein (LDL) and very low density lipoprotein (VLDL). (wikipedia.org)
Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. (bvsalud.org)
A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. (jefferson.edu)
Genetic1
Photographed in Sylet, East Pakistan, this female patient resented with numerous cutaneous nodules on her back having been afflicted with the genetic disorder known as neurofibromatosis, or the eponym, Von Recklinghausen's disease. (cdc.gov)
Mutations3
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic cases, by mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). (nih.gov)
Autoimmune lymphoproliferative syndrome due to mutations in CASPASE 8 gene. (bvsalud.org)
Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders. (nih.gov)
Onset1
Inherited myotonic disorders with early childhood onset MYOTONIA . (nih.gov)
MeSH1
Alstrom Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (uchicago.edu)
Rare1
A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. (childrensmercy.org)
Type1
This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. (uchicago.edu)
Major1
This graph shows the total number of publications written about "Alstrom Syndrome" by people in this website by year, and whether "Alstrom Syndrome" was a major or minor topic of these publications. (uchicago.edu)
Children1
Abdelmoity SA, Abdelmoity AA, Riordan SM, Kaufman C, Le Pichon JB, Abdelmoity A. The efficacy and tolerability of auto-stimulation-VNS in children with Lennox-Gastaut syndrome. (childrensmercy.org)
Publications1
Below are the most recent publications written about "Alstrom Syndrome" by people in Profiles. (uchicago.edu)
Diseases2
Mitochondrial DNA (mtDNA) depletion syndrome comprises diseases resulting from a deficiency of proteins involved in mtDNA synthesis. (nih.gov)
Genetic immunologic deficiency diseases and syndromes due to mutations in genes involved in IMMUNITY generally characterized by an increased susceptibility to infectious diseases. (bvsalud.org)
Acanthocytosis1
Frank A. Bassen M.D. "Retinitis Pigmentosa, Acanthocytosis, and Heredodegenerative Neuromuscular Disease. (wikipedia.org)
Genetic1
This image depicts a portrait of a man afflicted with the genetic disorder known as neurofibromatosis, or the eponym, Von Recklinghausen's disease. (cdc.gov)
Disease7
MPV17-related hepatocerebral mtDNA depletion syndrome is a rare autosomal recessive disease. (nih.gov)
Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome. (harvard.edu)
Bassen-Kornzweig disease, also called Bassen-Kornzweig Syndrome, is a rare congenital disorder in which the body fails to produce chylomicrons, a low density lipoprotein (LDL) and very low density lipoprotein (VLDL). (wikipedia.org)
Therefore, CG is regarded as a syndrome rather than a specific disease entity. (medscape.com)
A central nervous system disease that results in the progressive deterioration of function or structure of neurons. (mcw.edu)
Robinow syndrome: report of two patients with cystic kidney disease. (childrensmercy.org)
The aim of this study was to assess cognitive function in patients with spinocerebellar ataxia type 6 (SCA6), an autosomal-dominantly inherited disease leading to a progressive cerebellar syndrome. (indexindex.com)
Movement disorders2
It is the dorsal striatum, however, which is most significant in motor activity and commonly involved in hyperkinetic and hypokinetic movement disorders. (medscape.com)
Movement disorders rarely occur during reproductive years, therefore, clinicians are not very familiar with chorea gravidarum (CG). (medscape.com)
Treatment includes vitamin E. Characteristics of the syndrome include the presence of acanthocytes (burr-cell malformation of the erythrocytes), and the reduction or even absence of B-lipoproteins. (wikipedia.org)
Genes1
Enfermedades y síndromes de deficiencia inmunológica genética debida a mutaciones en genes relacionados con la INMUNIDAD que se caracterizan generalmente por un aumento de la susceptibilidad a las enfermedades infecciosas. (bvsalud.org)
Manifestations1
This case report describes the clinical manifestations of MPV17-related hepatocerebral mtDNA depletion syndrome analyzed by performing whole-exome sequencing (WES). (nih.gov)
Fragility1
Bone Fragility in Hereditary Connective Tissue Disorders: A Systematic Review and Meta-Analysis. (harvard.edu)
Males with deafness-dystonia-optic neuronopathy (DDON) syndrome have prelingual or postlingual sensorineural hearing impairment in early childhood, slowly progressive dystonia or ataxia in the teens, slowly progressive decreased visual acuity from optic atrophy beginning at approximately age 20 years, and dementia beginning at approximately age 40 years. (nih.gov)
Developmental1
Overall, WES can help diagnose hepatocerebral mtDNA depletion syndrome in patients with hepatopathy, developmental delay, lactic acidosis, and hypomyelination based on brain magnetic resonance imaging. (nih.gov)
Chorea1
In 2004, Miranda et al reported of a case of chorea associated with the use of the oral contraceptives, in which anti-basal ganglia antibodies were detected, suggesting a possible immunological basis to the pathogenesis of this disorder. (medscape.com)
Males1
The diagnosis of DDON syndrome is established in either a male proband who has a hemizygous TIMM8A pathogenic variant (~50% of affected males) or a female proband who has a heterozygous TIMM8A pathogenic variant (~50% of affected females) or a contiguous gene deletion of Xq22.1 involving TIMM8A (~50% of affected males and females). (nih.gov)
People5
This graph shows the total number of publications written about "Unverricht-Lundborg Syndrome" by people in UAMS Profiles by year, and whether "Unverricht-Lundborg Syndrome" was a major or minor topic of these publications. (uams.edu)
Below are the most recent publications written about "Unverricht-Lundborg Syndrome" by people in Profiles over the past ten years. (uams.edu)
Below are the most recent publications written about "Loeys-Dietz Syndrome" by people in Profiles. (harvard.edu)
Below are the most recent publications written about "Kartagener Syndrome" by people in Profiles. (umassmed.edu)
Below are the most recent publications written about "Camurati-Engelmann Syndrome" by people in Profiles over the past ten years. (uams.edu)
Include1
Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes. (harvard.edu)
Treatment1
Standard treatment of behavioral issues / psychiatric disorders. (nih.gov)