• The disease is transmitted as an autosomal recessive trait. (wikipedia.org)
  • Rare autosomal recessive disease characterized by multiple organ dysfunction. (uchicago.edu)
  • A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. (childrensmercy.org)
  • Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked. (jefferson.edu)
  • Inheritance may be autosomal recessive or the illness may occur sporadically. (rush.edu)
  • It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. (nih.gov)
  • Type I features autosomal dominant inheritance and distal sensory involvement. (nih.gov)
  • An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. (wakehealth.edu)
  • Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I . (nih.gov)
  • An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. (nih.gov)
  • Type II is characterized by autosomal inheritance and distal and proximal sensory loss. (nih.gov)
  • A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. (jefferson.edu)
  • Frank A. Bassen M.D. "Retinitis Pigmentosa, Acanthocytosis, and Heredodegenerative Neuromuscular Disease. (wikipedia.org)
  • 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)
  • A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. (nih.gov)
  • 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)
  • 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)
  • 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)
  • 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)
  • Frank A. Bassen M.D. "Retinitis Pigmentosa, Acanthocytosis, and Heredodegenerative Neuromuscular Disease. (wikipedia.org)
  • 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)
  • Unverricht-Lundborg Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (uams.edu)
  • Kartagener Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)
  • 15] To demonstrate that a disorder is autoimmune, 5 criteria must be fulfilled. (medscape.com)
  • This disorder is due to mutations of chorein which is important in protein trafficking and is encoded by Vps13a on chromosome 9q21. (sdsu.edu)
  • The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts. (umassmed.edu)
  • It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. (ouhsc.edu)
  • 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)
  • A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. (nih.gov)
  • 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)
  • The patients have a distinctive, progressive disorder that starts with episodic symptoms such as migraine-like headache or epilepsy. (nih.gov)
  • 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)
  • 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)
  • Jadeja N, Nalleballe K. Pearls & Oy-sters: Bow hunter syndrome: A rare cause of posterior circulation stroke: Do not look the other way. (uams.edu)
  • 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)
  • To investigate three families and one sporadic case with a recessively inherited ataxic syndrome. (nih.gov)
  • An autosomal dominant inherited form of HYPERTROPHIC CARDIOMYOPATHY. (wakehealth.edu)
  • Standard treatment of behavioral issues / psychiatric disorders. (nih.gov)