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Vertigo

MedGen UID:
500924
Concept ID:
CN002108
Finding
Synonyms: Dizziness
 
HPO: HP:0002321

Definition

An abnormal sensation of spinning while the body is actually stationary. [from HPO]

Conditions with this feature

Fabry's disease
MedGen UID:
8083
Concept ID:
C0002986
Disease or Syndrome
Fabry disease results from deficient activity of the enzyme a-galactosidase (a-Gal A) and progressive lysosomal deposition of globotriaosylceramide (GL-3) in cells throughout the body. The classic form, occurring in males with less than 1% a-Gal A enzyme activity, usually has its onset in childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesias), the appearance of vascular cutaneous lesions (angiokeratomas), sweating abnormalities (anhydrosis, hypohydosis, and rarely hyperhidrosis), characteristic corneal and lenticular opacities, and proteinuria. Gradual deterioration of renal function to end-stage renal disease (ESRD) usually occurs in men in the third to fifth decade. In middle age, most males successfully treated for ESRD develop cardiac and/or cerebrovascular disease, a major cause of morbidity and mortality. Heterozygous females typically have milder symptoms at a later age of onset than males. Rarely, they may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. In contrast, males with greater than 1% a-Gal A activity may have either (1) a cardiac variant phenotype that usually presents in the sixth to eighth decade with left ventricular hypertrophy, mitral insufficiency and/or cardiomyopathy, and proteinuria, but without ESRD; or (2) a renal variant phenotype, associated with ESRD but without the skin lesions or pain.
Behcet's syndrome
MedGen UID:
2568
Concept ID:
C0004943
Disease or Syndrome
Behçet disease is an inflammatory condition that affects many parts of the body. The health problems associated with Behçet disease result from widespread inflammation of blood vessels (vasculitis). This inflammation most commonly affects the mouth, genitals, skin, and eyes. Painful mouth sores called aphthous ulcers are usually the first sign of Behçet disease. These sores occur on the lips and tongue and inside the cheeks. The ulcers look like common canker sores, and they typically heal within one to two weeks. About 75 percent of all people with Behçet disease develop similar ulcers on the genitals. These ulcers occur most frequently on the scrotum in men and on the labia in women. Behçet disease can also cause painful bumps and sores on the skin. Most affected individuals develop pus-filled bumps that resemble acne. These bumps can occur anywhere on the body. Some affected people also have red, tender nodules called erythema nodosum. These nodules usually develop on the legs but can also occur on the face, neck, and arms. An inflammation of the eye called uveitis is found in more than half of people with Behçet disease. Eye problems are more common in younger people with the disease and affect men more often than women. Uveitis can result in blurry vision and an extreme sensitivity to light (photophobia). Rarely, inflammation can also cause eye pain and redness. If untreated, the eye problems associated with Behçet disease can lead to blindness. Less commonly, Behçet disease can affect the joints, gastrointestinal tract, large blood vessels, and brain and spinal cord (central nervous system). Central nervous system abnormalities are among the most serious complications of Behçet disease. Related symptoms can include headaches, confusion, personality changes, memory loss, impaired speech, and problems with balance and movement. The signs and symptoms of Behçet disease usually begin in a person's twenties or thirties, although they can appear at any age. Some affected people have relatively mild symptoms that are limited to sores in the mouth and on the genitals. Others have more severe symptoms affecting many parts of the body, including the central nervous system. The features of Behçet disease typically come and go over a period of months or years. In most affected individuals, the health problems associated with this disorder improve with age.
Von Hippel-Lindau syndrome
MedGen UID:
42458
Concept ID:
C0019562
Disease or Syndrome
Von Hippel-Lindau (VHL) disease is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma, pancreatic cysts and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cysts. Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas and related syrinx usually present with pain. Sensory and motor loss may develop with cord compression. Retinal hemangioblastomas may be the initial manifestation of VHL disease and can cause vision loss. Renal cell carcinoma occurs in about 70% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Pancreatic lesions often remain asymptomatic and rarely cause endocrine or exocrine insufficiency. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom. Cysts of the epididymis are relatively common. They rarely cause problems, unless bilateral, in which case they may result in infertility.
Ménière's disease
MedGen UID:
7530
Concept ID:
C0025281
Disease or Syndrome
Meniere disease is a chronic illness characterized by intermittent episodes of vertigo lasting from minutes to hours, with fluctuating sensorineural hearing loss, tinnitus, and aural pressure (Sajjadi and Paparella, 2008).
Neurofibromatosis, type 2
MedGen UID:
18014
Concept ID:
C0027832
Neoplastic Process
Neurofibromatosis 2 (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and, very rarely, astrocytomas. Posterior subcapsular lens opacities that rarely progress to a visually significant cataract are the most common ocular findings and may be the first sign of NF2. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy, a squint (third nerve palsy), or hand/foot drop.
Polycythemia vera
MedGen UID:
45996
Concept ID:
C0032463
Neoplastic Process
Polycythemia vera, the most common form of primary polycythemia, is caused by somatic mutation in a single hematopoietic stem cell leading to clonal hematopoiesis. PV is a myeloproliferative disorder characterized predominantly by erythroid hyperplasia, but also by myeloid leukocytosis, thrombocytosis, and splenomegaly. Familial cases of PV are very rare and usually manifest in elderly patients (Cario, 2005). PV is distinct from the familial erythrocytoses (see, e.g., ECYT1, 133100), which are caused by inherited mutations resulting in hypersensitivity of erythroid progenitors to hormonal influences or increased levels of circulating hormones, namely erythropoietin (EPO; 133170) (Prchal, 2005).
Benign paroxysmal positional vertigo
MedGen UID:
57837
Concept ID:
C0155502
Disease or Syndrome
Benign recurrent vertigo (BRV), also known as benign paroxysmal positional vertigo (BPPV), is a common disorder affecting up to 2% of the adult population. The majority of individuals with chronic recurrent vertigo have no identifiable cause, no progression of the disorder, and no other neurologic or auditory signs. Many families have multiple affected individuals, suggesting familial transmission of the disorder with moderate to high penetrance (summary by Lee et al., 2006).
Degos disease
MedGen UID:
113138
Concept ID:
C0221011
Disease or Syndrome
Variously described as a vasculopathy, endovasculitis, or occlusive arteriopathy, this condition occurs in a benign cutaneous form and a lethal multiorgan systemic variant. It is characterized by a narrowing and occlusion of the lumen of small to medium-sized blood vessels, leading to ischemia and infarction in the involved organ systems. The etiology and pathophysiology are unknown.
Ehlers-Danlos syndrome, type 3
MedGen UID:
75670
Concept ID:
C0268337
Disease or Syndrome
Ehlers-Danlos syndrome (EDS), hypermobility type is generally considered the least severe type of EDS, although significant complications, primarily musculoskeletal, can and do occur. The skin is often soft or velvety and may be mildly hyperextensible. Subluxations and dislocations are common; they may occur spontaneously or with minimal trauma and can be acutely painful. Degenerative joint disease is common. Chronic pain, distinct from that associated with acute dislocations, is a serious complication of the condition and can be both physically and psychologically disabling. Easy bruising is common. Functional bowel disorders are likely underrecognized. Autonomic dysfunction, such as orthostatic intolerance, may also be seen. Aortic root dilation is typically of a mild degree with no increased risk of dissection in the absence of significant dilation. Psychological dysfunction, psychosocial impairment, and emotional problems are common.
Ehlers-Danlos syndrome, type 4
MedGen UID:
82790
Concept ID:
C0268338
Disease or Syndrome
Ehlers-Danlos syndrome type IV (EDS type IV) is characterized by thin, translucent skin; easy bruising; characteristic facial appearance (in some individuals); and arterial, intestinal, and/or uterine fragility. Vascular dissection or rupture, gastrointestinal perforation, or organ rupture are the presenting signs in the majority of adults identified to have EDS type IV. Arterial rupture may be preceded by aneurysm, arteriovenous fistulae, or dissection but also may occur spontaneously. Neonates may present with clubfoot and/or congenital dislocation of the hips. In childhood, inguinal hernia, pneumothorax, and recurrent joint subluxation or dislocation can occur. Pregnancy for women with EDS type IV has as much as a 12% risk for death from peripartum arterial rupture or uterine rupture. One-fourth of individuals with EDS type IV who have undergone laboratory testing to confirm their diagnosis have experienced a significant medical problem by age 20 years and more than 80% by age 40 years. The median age of death in this reviewed population was 48 years.
Glutaric aciduria, type 1
MedGen UID:
124337
Concept ID:
C0268595
Disease or Syndrome
The term "organic acidemia" or "organic aciduria" (OA) applies to a group of disorders characterized by the excretion of non-amino organic acids in urine. Most organic acidemias result from dysfunction of a specific step in amino acid catabolism, usually the result of deficient enzyme activity. The majority of the classic organic acid disorders are caused by abnormal amino acid catabolism of branched-chain amino acids or lysine. They include maple syrup urine disease (MSUD), propionic acidemia, methylmalonic acidemia (MMA), methylmalonic aciduria and homocystinuria, isovaleric acidemia, biotin-unresponsive 3-methylcrotonyl-CoA carboxylase deficiency, 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency, ketothiolase deficiency, and glutaricacidemia type I (GA I). A neonate affected with an OA is usually well at birth and for the first few days of life. The usual clinical presentation is that of toxic encephalopathy and includes vomiting, poor feeding, neurologic symptoms such as seizures and abnormal tone, and lethargy progressing to coma. Outcome is enhanced by diagnosis and treatment in the first ten days of life. In the older child or adolescent, variant forms of the OAs can present as loss of intellectual function, ataxia or other focal neurologic signs, Reye syndrome, recurrent ketoacidosis, or psychiatric symptoms.
Pendred's syndrome
MedGen UID:
82890
Concept ID:
C0271829
Congenital Abnormality
Pendred syndrome (PDS) and DFNB4 comprise a phenotypic spectrum of hearing loss with or without other findings. Pendred syndrome is characterized by: severe-to-profound bilateral sensorineural hearing impairment that is usually congenital (or prelingual) and non-progressive; vestibular dysfunction; temporal bone abnormalities; and development of euthyroid goiter in late childhood to early adulthood. Variability of findings is considerable, even within the same family. DFNB4 is characterized by nonsyndromic sensorineural hearing impairment, vestibular dysfunction, and enlarged vestibular aqueduct (EVA). Thyroid defects are not seen in DFNB4.
Idiopathic livedo reticularis with systemic involvement
MedGen UID:
76449
Concept ID:
C0282492
Disease or Syndrome
Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood (summary by Bras et al., 2014). Livedo reticularis occurs also with polyarteritis nodosa, systemic lupus erythematosus, and central thrombocythemia, any one of which may be accompanied by cerebrovascular accidents (Bruyn et al., 1987).
Diabetes-deafness syndrome maternally transmitted
MedGen UID:
90979
Concept ID:
C0342289
Congenital Abnormality
Maternally inherited diabetes-deafness syndrome (MIDD) is a mitochondrial disorder characterized by onset of sensorineural hearing loss and diabetes in adulthood. Some patients may have additional features observed in mitochondrial disorders, including pigmentary retinopathy, ptosis, cardiomyopathy, myopathy, renal problems, and neuropsychiatric symptoms (Ballinger et al., 1992; Reardon et al., 1992; Guillausseau et al., 2001). The association of diabetes and deafness is observed with Wolfram syndrome (see 222300), Rogers syndrome (249270), and Herrmann syndrome (172500), but all 3 of these disorders have other clinical manifestations.
Hyperimmunoglobulin D with periodic fever
MedGen UID:
140768
Concept ID:
C0398691
Disease or Syndrome
Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often. Mevalonate kinase deficiency has additional signs and symptoms, and the severity depends on the type of the condition. There are two types of mevalonate kinase deficiency: a less severe type called hyperimmunoglobulinemia D syndrome (HIDS) and a more severe type called mevalonic aciduria (MVA). During episodes of fever, people with HIDS typically have enlargement of the lymph nodes (lymphadenopathy), abdominal pain, joint pain, diarrhea, skin rashes, and headache. Occasionally they will have painful sores called aphthous ulcers around their mouth. In females, these may also occur around the vagina. A small number of people with HIDS have intellectual disability, problems with movement and balance (ataxia), eye problems, and recurrent seizures (epilepsy). Rarely, people with HIDS develop a buildup of protein deposits (amyloidosis) in the kidneys that can lead to kidney failure. Fever episodes in individuals with HIDS can be triggered by vaccinations, surgery, injury, or stress. Most people with HIDS have abnormally high levels of immune system proteins called immunoglobulin D (IgD) and immunoglobulin A (IgA) in the blood. It is unclear why people with HIDS have high levels of IgD and IgA. Elevated levels of these immunoglobulins do not appear to cause any signs or symptoms. Individuals with HIDS do not have any signs and symptoms of the condition between fever episodes and typically have a normal life expectancy. People with MVA have signs and symptoms of the condition at all times, not just during episodes of fever. Affected children have developmental delay, progressive ataxia, progressive problems with vision, and failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MVA typically have an unusually small, elongated head. In childhood or adolescence, affected individuals may develop eye problems such as inflammation of the eye (uveitis), a blue tint in the white part of the eye (blue sclera), an eye disorder called retinitis pigmentosa that causes vision loss, or clouding of the lens of the eye (cataracts). Affected adults may have short stature and may develop muscle weakness (myopathy) later in life. During fever episodes, people with MVA may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, and skin rashes. Children with MVA who are severely affected with multiple problems may live only into early childhood; mildly affected individuals may have a normal life expectancy.
Chiari malformation type I
MedGen UID:
196689
Concept ID:
C0750929
Disease or Syndrome
Chiari malformation type I (CM1) is the protrusion of the cerebellar tonsils through the foramen magnum, defined radiologically as tonsillar descent of 5 mm or more. CM1 is associated with syringomyelia (see 186700) in up to 80% of cases. Although many individuals with CM1 are asymptomatic, the malformation can cause headaches, ocular disturbances, otoneurologic disturbances, lower cranial nerve signs, cerebellar ataxia, or spasticity. Onset of symptoms is usually in the third decade of life (Speer et al., 2003). Since many cases of CM1 are asymptomatic, prevalence estimates may not be accurate. However, a retrospective investigation of brain MRIs reported the prevalence of CM1 to be 1 in 1,280 individuals (Meadows et al., 2000).
TNF receptor-associated periodic fever syndrome (TRAPS)
MedGen UID:
226899
Concept ID:
C1275126
Congenital Abnormality
Tumor necrosis factor receptor-associated periodic syndrome (commonly known as TRAPS) is a condition characterized by recurrent episodes of fever. These fevers typically last about 3 weeks but can last from a few days to a few months. The frequency of the episodes varies greatly among affected individuals; fevers can occur anywhere between every 6 weeks to every few years. Some individuals can go many years without having a fever episode. Fever episodes usually occur spontaneously, but sometimes they can be brought on by a variety of triggers, such as minor injury, infection, stress, exercise, or hormonal changes. During episodes of fever, people with TRAPS can have additional signs and symptoms. These include abdominal and muscle pain and a spreading skin rash, typically found on the limbs. Affected individuals may also experience puffiness or swelling in the skin around the eyes (periorbital edema); joint pain; and inflammation in various areas of the body including the eyes, heart muscle, certain joints, throat, or mucous membranes such as the moist lining of the mouth and digestive tract. Occasionally, people with TRAPS develop amyloidosis, an abnormal buildup of a protein called amyloid in the kidneys that can lead to kidney failure. It is estimated that 15 to 20 percent of people with TRAPS develop amyloidosis. The fever episodes characteristic of TRAPS can begin at any age, from infancy to late adulthood, but most people have their first episode in early childhood.
Episodic ataxia type 1
MedGen UID:
318554
Concept ID:
C1719788
Disease or Syndrome
Episodic ataxia type 1 (EA1) is a potassium channelopathy characterized by constant myokymia and dramatic episodes of spastic contractions of the skeletal muscles of the head, arms, and legs with loss of both motor coordination and balance. During attacks individuals may experience a number of variable symptoms including vertigo, blurred vision, diplopia, nausea, headache, diaphoresis, clumsiness, stiffening of the body, dysarthric speech, and difficulty in breathing, among others. EA1 may be associated with epilepsy. Other findings can include delayed motor development, cognitive disability, choreoathetosis, and carpal spasm. Usually, onset is in childhood or early adolescence.
Episodic ataxia type 2
MedGen UID:
314039
Concept ID:
C1720416
Disease or Syndrome
Episodic ataxia type 2 (EA2) is characterized by paroxysmal attacks of ataxia, vertigo, and nausea typically lasting minutes to days in duration. Attacks can be associated with dysarthria, diplopia, tinnitus, dystonia, hemiplegia, and headache. About 50% of individuals with EA2 have migraine headaches. Onset is typically in childhood or early adolescence (age range 2-32 years). Frequency of attacks can range from once or twice a year to three or four times a week. Attacks can be triggered by stress, exertion, caffeine, alcohol, fever, heat, and phenytoin and can be stopped or decreased in frequency and severity by administration of acetazolamide. Between attacks, individuals may initially be asymptomatic but eventually develop interictal findings that can include nystagmus and ataxia.
Deafness, autosomal dominant 9
MedGen UID:
371327
Concept ID:
C1832425
Disease or Syndrome
Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops).
Deafness, autosomal dominant 11
MedGen UID:
331297
Concept ID:
C1832475
Disease or Syndrome
Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops).
Naxos disease
MedGen UID:
321991
Concept ID:
C1832600
Disease or Syndrome
Vulvar Vestibulitis Syndrome
MedGen UID:
373086
Concept ID:
C1836438
Disease or Syndrome
Vasovagal syncope (VVS) is an exaggerated tendency toward the common faint caused by a sudden and profound hypotension with or without bradycardia. Several lines of evidence indicate central and peripheral abnormalities of sympathetic function. Newton et al. (2005) stated that a definitive diagnosis of VVS is made only when a patient has reproduction of symptoms in association with hypotension or bradycardia. The head up tilt (HUT) test is the investigation carried out to induce these hemodynamic changes (Parry and Kenny, 1999). This disorder may be the same as Streeten-type orthostatic hypotensive disorder (143850).
Kanzaki disease
MedGen UID:
324539
Concept ID:
C1836522
Disease or Syndrome
Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder with atypical features. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy (609241); type II, also known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder (see 609241) with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).
Schindler disease, type 1
MedGen UID:
373113
Concept ID:
C1836544
Disease or Syndrome
Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (609242), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).
Deafness, autosomal recessive 2
MedGen UID:
325485
Concept ID:
C1838701
Disease or Syndrome
Episodic ataxia, type 3
MedGen UID:
376220
Concept ID:
C1847839
Disease or Syndrome
The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. In this GeneReview the hereditary ataxias are categorized by mode of inheritance and gene (or chromosomal locus) in which pathogenic variants occur.
Episodic ataxia, type 4
MedGen UID:
376222
Concept ID:
C1847843
Disease or Syndrome
The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. In this GeneReview the hereditary ataxias are categorized by mode of inheritance and gene (or chromosomal locus) in which pathogenic variants occur.
Familial erythrocytosis, 1
MedGen UID:
343583
Concept ID:
C1851490
Disease or Syndrome
Familial erythrocytosis-1 is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. There is no increase in platelets or leukocytes and the disorder does not progress to leukemia (Kralovics et al., 1998). Genetic Heterogeneity of Familial Erythrocytosis See also ECYT2 (263400), caused by mutation in the VHL gene (608537) on chromosome 3p25; ECYT3 (609820), caused by mutation in the EGLN1 gene (606425) on chromosome 1q42; and ECYT4 (611783), caused by mutation in the EPAS1 gene (603349) on chromosome 2p. Erythrocytosis may also be caused by somatic mutation in the JAK2 (147796) or the SH2B3 (605093) gene on chromosome 9p24 and 12q24, respectively. For a review of the genetics of congenital erythrocytosis, see Bento et al. (2014).
Deafness oligodontia syndrome
MedGen UID:
387798
Concept ID:
C1857333
Disease or Syndrome
Familial hemiplegic migraine type 2
MedGen UID:
355962
Concept ID:
C1865322
Disease or Syndrome
Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including familial hemiplegic migraine) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias of the face or an extremity), and dysphasia (difficulty with speech); FHM must include motor involvement, i.e., hemiparesis (weakness of an extremity). Hemiparesis occurs with at least one other symptom during FHM aura. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. FHM is often earlier in onset than typical migraine, frequently beginning in the first or second decade; the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with FHM1 have cerebellar signs ranging from nystagmus to progressive, usually late-onset mild ataxia. Cerebral infarction and death have rarely been associated with hemiplegic migraine.
Temporal arteritis
MedGen UID:
365495
Concept ID:
C1956391
Disease or Syndrome
An autoimmune, systemic, giant cell granulomatous arteritis predominantly involving the arteries that supply blood to the central nervous system, head and eyes. Superficial arteries of the scalp that are involved tend to be enlarged and tender. Signs and symptoms include headaches, myalgias, visual disturbances, and skin necrosis.
Epilepsy, familial mesial temporal lobe
MedGen UID:
368898
Concept ID:
C1968848
Disease or Syndrome
Episodic ataxia, type 7
MedGen UID:
383209
Concept ID:
C2677843
Disease or Syndrome
Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. People with episodic ataxia have recurrent episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). Seizures, muscle weakness, and paralysis affecting one side of the body (hemiplegia) may also occur during attacks. Additionally, some affected individuals have a muscle abnormality called myokymia during or between episodes. This abnormality can cause muscle cramping, stiffness, and continuous, fine muscle twitching that appears as rippling under the skin. Episodes of ataxia and other symptoms can begin anytime from early childhood to adulthood. They can be triggered by environmental factors such as emotional stress, caffeine, alcohol, certain medications, physical activity, and illness. The frequency of attacks ranges from several per day to one or two per year. Between episodes, some affected individuals continue to experience ataxia, which may worsen over time, as well as involuntary eye movements called nystagmus. Researchers have identified at least seven types of episodic ataxia, designated type 1 through type 7. The types are distinguished by their pattern of signs and symptoms, age of onset, length of attacks, and, when known, genetic cause.
Hypomagnesemia 6, renal
MedGen UID:
462645
Concept ID:
C3151295
Disease or Syndrome
Lymphedema, primary, with myelodysplasia
MedGen UID:
481294
Concept ID:
C3279664
Disease or Syndrome
Ventricular tachycardia, catecholaminergic polymorphic, 4
MedGen UID:
766961
Concept ID:
C3554047
Disease or Syndrome
Idiopathic basal ganglia calcification 5
MedGen UID:
815975
Concept ID:
C3809645
Disease or Syndrome
Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive (summary by Keller et al., 2013). For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600).

Recent clinical studies

Etiology

Yuan Q, Yu L, Shi D, Ke X, Zhang H
Medicine (Baltimore) 2015 Feb;94(5):e453. doi: 10.1097/MD.0000000000000453. PMID: 25654382
Lahmann C, Henningsen P, Brandt T, Strupp M, Jahn K, Dieterich M, Eckhardt-Henn A, Feuerecker R, Dinkel A, Schmid G
J Neurol Neurosurg Psychiatry 2015 Mar;86(3):302-8. Epub 2014 Jun 24 doi: 10.1136/jnnp-2014-307601. [Epub ahead of print] PMID: 24963122
Lin KY, Young YH
Clin Neurophysiol 2015 Jan;126(1):187-93. Epub 2014 Apr 24 doi: 10.1016/j.clinph.2014.03.032. [Epub ahead of print] PMID: 24835794
Chang F, Li Z, Xie S, Liu H, Wang W
Spine (Phila Pa 1976) 2014 Nov 1;39(23):E1374-9. doi: 10.1097/BRS.0000000000000468. PMID: 24921844
Mueller M, Strobl R, Jahn K, Linkohr B, Peters A, Grill E
Eur J Public Health 2014 Oct;24(5):802-7. Epub 2013 Nov 8 doi: 10.1093/eurpub/ckt171. [Epub ahead of print] PMID: 24213583

Diagnosis

Tarnutzer AA, Lee SH, Robinson KA, Kaplan PW, Newman-Toker DE
Neurology 2015 Apr 14;84(15):1595-604. Epub 2015 Mar 20 doi: 10.1212/WNL.0000000000001474. [Epub ahead of print] PMID: 25795644Free PMC Article
Grewal K, Austin PC, Kapral MK, Lu H, Atzema CL
Stroke 2015 Jan;46(1):108-13. Epub 2014 Dec 4 doi: 10.1161/STROKEAHA.114.007087. [Epub ahead of print] PMID: 25477217
Lahmann C, Henningsen P, Brandt T, Strupp M, Jahn K, Dieterich M, Eckhardt-Henn A, Feuerecker R, Dinkel A, Schmid G
J Neurol Neurosurg Psychiatry 2015 Mar;86(3):302-8. Epub 2014 Jun 24 doi: 10.1136/jnnp-2014-307601. [Epub ahead of print] PMID: 24963122
Lin KY, Young YH
Clin Neurophysiol 2015 Jan;126(1):187-93. Epub 2014 Apr 24 doi: 10.1016/j.clinph.2014.03.032. [Epub ahead of print] PMID: 24835794
Chang F, Li Z, Xie S, Liu H, Wang W
Spine (Phila Pa 1976) 2014 Nov 1;39(23):E1374-9. doi: 10.1097/BRS.0000000000000468. PMID: 24921844

Therapy

Lehnen N, Langhagen T, Heinen F, Huppert D, Brandt T, Jahn K
Dev Med Child Neurol 2015 Apr;57(4):393-6. Epub 2014 Aug 22 doi: 10.1111/dmcn.12563. [Epub ahead of print] PMID: 25146998
Liston DB, Adelstein BD, Stone LS
Aviat Space Environ Med 2014 Feb;85(2):183-6. PMID: 24597164
Inoue Y, Yabe T, Okada K, Nakamura Y
Auris Nasus Larynx 2014 Jun;41(3):303-6. Epub 2013 Oct 28 doi: 10.1016/j.anl.2013.10.001. [Epub ahead of print] PMID: 24176488
De Stefano A, Dispenza F, Suarez H, Perez-Fernandez N, Manrique-Huarte R, Ban JH, Kim MB, Strupp M, Feil K, Oliveira CA, Sampaio AL, Araujo MF, Bahmad F Jr, Ganança MM, Ganança FF, Dorigueto R, Lee H, Kulamarva G, Mathur N, Di Giovanni P, Petrucci AG, Staniscia T, Citraro L, Croce A
Auris Nasus Larynx 2014 Feb;41(1):31-6. Epub 2013 Aug 6 doi: 10.1016/j.anl.2013.07.007. [Epub ahead of print] PMID: 23932347
van Wensen E, van Leeuwen RB, van der Zaag-Loonen HJ, Masius-Olthof S, Bloem BR
Parkinsonism Relat Disord 2013 Dec;19(12):1110-2. Epub 2013 Aug 13 doi: 10.1016/j.parkreldis.2013.07.024. [Epub ahead of print] PMID: 23948517

Prognosis

Kartal AG, Yılmaz S, Yaka E, Pekdemir M, Sarısoy HT, Çekmen MB, Yüksel M
Acad Emerg Med 2014 Jul;21(7):736-41. doi: 10.1111/acem.12420. PMID: 25125270
Ozono Y, Kitahara T, Fukushima M, Michiba T, Imai R, Tomiyama Y, Nishiike S, Inohara H, Morita H
Acta Otolaryngol 2014 Feb;134(2):140-5. Epub 2013 Dec 6 doi: 10.3109/00016489.2013.832377. [Epub ahead of print] PMID: 24308666
Yamanaka T, Sawai Y, Hosoi H
Auris Nasus Larynx 2014 Jun;41(3):307-9. Epub 2013 Oct 24 doi: 10.1016/j.anl.2013.08.004. [Epub ahead of print] PMID: 24206829
De Stefano A, Dispenza F, Suarez H, Perez-Fernandez N, Manrique-Huarte R, Ban JH, Kim MB, Strupp M, Feil K, Oliveira CA, Sampaio AL, Araujo MF, Bahmad F Jr, Ganança MM, Ganança FF, Dorigueto R, Lee H, Kulamarva G, Mathur N, Di Giovanni P, Petrucci AG, Staniscia T, Citraro L, Croce A
Auris Nasus Larynx 2014 Feb;41(1):31-6. Epub 2013 Aug 6 doi: 10.1016/j.anl.2013.07.007. [Epub ahead of print] PMID: 23932347
Liou LM, Lin HF, Huang IF, Chang YP, Lin RT, Lai CL
Kaohsiung J Med Sci 2013 Dec;29(12):667-72. Epub 2013 Aug 30 doi: 10.1016/j.kjms.2013.01.015. [Epub ahead of print] PMID: 24296055

Clinical prediction guides

Grewal K, Austin PC, Kapral MK, Lu H, Atzema CL
Stroke 2015 Jan;46(1):108-13. Epub 2014 Dec 4 doi: 10.1161/STROKEAHA.114.007087. [Epub ahead of print] PMID: 25477217
Lehnen N, Langhagen T, Heinen F, Huppert D, Brandt T, Jahn K
Dev Med Child Neurol 2015 Apr;57(4):393-6. Epub 2014 Aug 22 doi: 10.1111/dmcn.12563. [Epub ahead of print] PMID: 25146998
Kartal AG, Yılmaz S, Yaka E, Pekdemir M, Sarısoy HT, Çekmen MB, Yüksel M
Acad Emerg Med 2014 Jul;21(7):736-41. doi: 10.1111/acem.12420. PMID: 25125270
Chang F, Li Z, Xie S, Liu H, Wang W
Spine (Phila Pa 1976) 2014 Nov 1;39(23):E1374-9. doi: 10.1097/BRS.0000000000000468. PMID: 24921844
Pagnini P, Vannucchi P, Giannoni B, Pecci R
Acta Otorhinolaryngol Ital 2014 Feb;34(1):62-70. PMID: 24711685Free PMC Article

Recent systematic reviews

Dieterich M, Brandt T
Neurology 2015 Apr 21;84(16):1680-4. Epub 2015 Mar 27 doi: 10.1212/WNL.0000000000001501. [Epub ahead of print] PMID: 25817840
Tarnutzer AA, Lee SH, Robinson KA, Kaplan PW, Newman-Toker DE
Neurology 2015 Apr 14;84(15):1595-604. Epub 2015 Mar 20 doi: 10.1212/WNL.0000000000001474. [Epub ahead of print] PMID: 25795644Free PMC Article
Hilton MP, Pinder DK
Cochrane Database Syst Rev 2014 Dec 8;12:CD003162. doi: 10.1002/14651858.CD003162.pub3. PMID: 25485940
Greco A, Macri GF, Gallo A, Fusconi M, De Virgilio A, Pagliuca G, Marinelli C, de Vincentiis M
J Immunol Res 2014;2014:459048. Epub 2014 Jan 15 doi: 10.1155/2014/459048. PMID: 24741601Free PMC Article
Strupp M, Dieterich M, Brandt T
Dtsch Arztebl Int 2013 Jul;110(29-30):505-15; quiz 515-6. Epub 2013 Jul 22 doi: 10.3238/arztebl.2013.0505. PMID: 24000301Free PMC Article

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