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A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development, or it can be inherited from two parents who are carriers of a faulty gene or from a parent with the disorder. When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA.
A glycogen storage disease is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells.
Alexander disease is a very rare autosomal dominant leukodystrophy, which are neurological conditions caused by anomalies in the myelin which protects nerve fibers in the brain. The most common type is the infantile form that usually begins during the first two years of life. Symptoms include mental and physical developmental delays, followed by the loss of developmental milestones, an abnormal increase in head size and seizures. The juvenile form of Alexander disease has an onset between the ages of 2 and 13 years. These children may have excessive vomiting, difficulty swallowing and speaking, poor coordination, and loss of motor control. Adult-onset forms of Alexander disease are less common. The symptoms sometimes mimic those of Parkinson's disease or multiple sclerosis, or may present primarily as a psychiatric disorder.
Chorea-acanthocytosis is a rare hereditary disease caused by a mutation in a gene that directs structural proteins in red blood cells. It belongs to a group of four diseases characterized under the name neuroacanthocytosis. When a patient's blood is viewed under a microscope, some of the red blood cells appear thorny. These thorny cells are called acanthocytes.
Torsion dystonia, also known as dystonia musculorum deformans, is a disease characterized by painful muscle contractions resulting in uncontrollable distortions. This specific type of dystonia is frequently found in children, with symptoms starting around the ages of 11 or 12. It commonly begins with contractions in one general area such as an arm or a leg that continue to progress throughout the rest of the body. It takes roughly 5 years for the symptoms to completely progress to a debilitating state.
Aceruloplasminemia is a rare autosomal recessive disorder in which the liver can not synthesize the protein ceruloplasmin properly, which is needed to transport copper around the blood. Copper deficiency in the brain results in neurological problems that generally appear in adulthood and worsen over time. .
Bethlem myopathy is predominantly an autosomal dominant myopathy, classified as a congenital form of limb-girdle muscular dystrophy. There are two types of Bethlem myopathy, based on which type of collagen is affected.
Dopamine-responsive dystonia (DRD) also known as Segawa syndrome (SS), is a genetic movement disorder which usually manifests itself during early childhood at around ages 5–8 years.
Neuroferritinopathy is a genetic neurodegenerative disorder characterized by the accumulation of iron in the basal ganglia, cerebellum, and motor cortex of the human brain. Symptoms, which are extrapyramidal in nature, progress slowly and generally do not become apparent until adulthood. These symptoms include chorea, dystonia, and cognitive deficits which worsen with age.
Ribose-5-phosphate isomerase deficiency is a human disorder caused by mutations in ribose-5-phosphate isomerase, an enzyme of the pentose phosphate pathway. With only four diagnosed patients over a 27-year period, RPI deficiency is the second rarest disease known as of now, being beaten only by Fields Condition affecting two known individuals, Catherine and Kirstie Fields.
Kufor–Rakeb syndrome (KRS) is an autosomal recessive disorder of juvenile onset also known as Parkinson disease-9 (PARK9). It is named after Kufr Rakeb in Irbid, Jordan. Kufor–Rakeb syndrome was first identified in this region in Jordan with a Jordanian couple's 5 children who had rigidity, mask-like face, and bradykinesia. The disease was first described in 1994 by Najim Al-Din et al. The OMIM number is 606693.
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is disease of the arteries in the brain, which causes tissue loss in the subcortical region of the brain and the destruction of myelin in the CNS. CARASIL is characterized by symptoms such as gait disturbances, hair loss, low back pain, dementia, and stroke. CARASIL is a rare disease, having only been diagnosed in about 50 patients, of which ten have been genetically confirmed. Most cases have been reported in Japan, but Chinese and caucasian individuals have also been diagnosed with the disease. CARASIL is inherited in an autosomal recessive pattern. There is currently no cure for CARASIL. Other names for CARASIL include familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension, Nemoto disease and Maeda syndrome.
Infantile cerebellar retinal degeneration is a rare hereditary neurological disorder which primarily affects the eyes and the brain.
IVIC syndrome, also known as Instituto Venezolano de Investigaciónes Científicas syndrome or oculo-oto-radial syndrome is a very rare autosomal dominant limb malformation genetic disorder that is characterized by upper limb and ocular abnormalities and congenital hearing loss on both ears.
Autosomal recessive axonal neuropathy with neuromyotonia, also known as Gamstorp-Wohlfart syndrome, is a rare hereditary disorder which is characterized by progressive poly-neuropathy, neuromyotonia, myokymia, pseudo-myotonia, hand-foot contractures, and abnormal neuro-myotonic/myokimic activity visible on needle EMG. According to OMIM, around 52 cases have been reported in medical literature However; new cases have been reported since 2014.
Autosomal dominant GTP cyclohydrolase I deficiency (AD-GTPCHD) is a disease caused by dysfunction of GTP cyclohydrolase I, an enzyme that plays an important role in the synthesis of tetrahydrobiopterin, and, as a consequence, of dopamine. This condition is one of the six known causes of tetrahydrobiopterin deficiency and is the most frequently-reported cause of dopa-responsive dystonia.
Tyrosine hydroxylase deficiency (THD) is a disorder caused by disfunction of tyrosine hydroxylase, an enzyme involved in the biosynthesis of dopamine. This condition is one of the causes of dopa-responsive dystonia.
Oculopharyngodistal myopathy is a rare genetic disorder characterized by progressive muscle weakness affecting various parts of the body.
Autosomal dominant leukodystrophy with autonomic disease is a rare neurological condition of genetic origin which is characterized by gradual demyelination of the central nervous system which results in various impairments, including ataxia, mild cognitive disability and autonomic dysfunction. It is part of a group of disorders called "leukodystrophies".
SLC13A5 citrate transporter disorder, or SLC13A5 Epilepsy, is a rare genetic spectrum disorder that presents with neurological symptoms. Symptoms include severe seizures, ataxia, dystonia, teeth hypoplasia, poor communication skills, difficulty standing or walking, as well as developmental delay. Other names associated with SLC13A5 Epilepsy include SLC13A5 Citrate Transporter Disorder, Citrate Transporter Disorder, SLC13A5 Deficiency, Early Infantile Epilepsy Encephalopathy 25 (EIEE25), Developmental Epilepsy Encephalopathy 25 (DEE25), and Kohlschutter-Tonz Syndrome (non-ROGDI).
References
- ↑ "Dystonia, juvenile-onset". www.uniprot.org. Retrieved 2022-05-15.
- ↑ www.malacards.org https://www.malacards.org/card/dystonia_juvenile_onset . Retrieved 2022-05-15.
{{cite web}}: Missing or empty|title=(help) - ↑ "Juvenile-onset dystonia - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-15.
- ↑ "OMIM Entry - # 607371 - DYSTONIA, JUVENILE-ONSET; DJO". www.omim.org. Retrieved 2022-05-15.
- ↑ Gearing, Marla; Juncos, Jorge L.; Procaccio, Vincent; Gutekunst, Claire-Anne; Marino-Rodriguez, Elaine M.; Gyure, Kymberly A.; Ono, Shoichiro; Santoianni, Robert; Krawiecki, Nicolas S.; Wallace, Douglas C.; Wainer, Bruce H. (October 2002). "Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia". Annals of Neurology. 52 (4): 465–476. doi:10.1002/ana.10319. ISSN 0364-5134. PMC 2821042 . PMID 12325076.
- ↑ Chowdhury, A.; Biswas, A.; Pandit, A. (2019-10-15). "A study of non-motor manifestations in patients with amyotrophic lateral sclerosis". Journal of the Neurological Sciences. 405: 333. doi: 10.1016/j.jns.2019.10.1455 . ISSN 0022-510X. S2CID 209476965.
- ↑ "Dystonia – Classifications, Symptoms and Treatment". www.aans.org. Retrieved 2022-05-15.
- ↑ Terao, Y.; Hashimoto, K.; Chiba, A.; Inoue, K.; Mannen, T. (September 1991). "[Juvenile-onset dystonia with bilateral atrophy of the basal ganglia on MRI]". Rinsho Shinkeigaku = Clinical Neurology. 31 (9): 1010–1014. ISSN 0009-918X. PMID 1769149.
- ↑ Mazarib, A.; Simon, E. S.; Korczyn, A. D.; Falik-Zaccai, Z.; Gazit, E.; Giladi, N. (July 2000). "Hereditary juvenile-onset craniocervical predominant generalized dystonia with parkinsonism". The Israel Medical Association Journal: IMAJ. 2 (7): 529–531. ISSN 1565-1088. PMID 10979329.
- ↑ "Juvenile-onset dystonia". NORD (National Organization for Rare Disorders). Retrieved 2022-05-15.
- ↑ Kuukasjärvi, Anna; Landoni, Juan C.; Kaukonen, Jyrki; Juhakoski, Mika; Auranen, Mari; Torkkeli, Tommi; Velagapudi, Vidya; Suomalainen, Anu (December 2021). "IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder". European Journal of Human Genetics. 29 (12): 1833–1837. doi:10.1038/s41431-021-00939-1. ISSN 1476-5438. PMC 8633184 . PMID 34305140.