Diagnosis [ edit ] The most important factor in diagnosing a patient with vertiginous epilepsy is the subject’s detailed description of the episode. [2] However, due to the associated symptoms of the syndrome a subject may have difficulty remembering the specifics of the experience. ... "Tornado Epilepsy Simulating Ménière's Syndrome." Neurology 9.11 (1959): 794. Neurology.
Other Names: IBM3; Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles; Inclusion body myopathy autosomal dominant; Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia; Hereditary inclusion body myopathy type 3; HIBM3 ^ "ORPHA79091: Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome" . OrphaNet . Retrieved 19 September 2016 . ^ "OMIM# 605637 - Myopathy, Proximal, and Ophthalmoplegia; MYPOP" . ... Other Names: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis; Pagetoid neuroskeletal syndrome ^ "ORPHA52430: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia" .
Summary Clinical characteristics. GNE myopathy is a slowly progressive muscle disease that typically presents between age 20 and 40 years with bilateral foot drop caused by anterior tibialis weakness. Lower-extremity muscle involvement progresses from the anterior to the posterior compartment of the lower leg, followed by hamstrings, then hip girdle muscles, with relative sparing of the quadriceps. A wheelchair may be needed about ten to 20 years after the onset of manifestations. The upper extremities, which may be affected within five to ten years of disease onset, do not necessarily follow a distal-to-proximal progression. In advanced stages, neck and core muscles can become affected. Diagnosis/testing.
Inclusion body myopathy 2 is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes muscle weakness that appears in late adolescence or early adulthood and worsens over time. The first sign of inclusion body myopathy 2 is weakness of a muscle in the lower leg called the tibialis anterior. This muscle helps control up-and-down movement of the foot. Weakness in the tibialis anterior alters the way a person walks and makes it difficult to run and climb stairs. As the disorder progresses, weakness also develops in muscles of the upper legs, hips, shoulders, and hands.
A number sign (#) is used with this entry because of evidence that distal myopathy with rimmed vacuoles (DMRV) is caused by heterozygous mutation in the SQSTM1 gene (601530) on chromosome 5q35. Description Distal myopathy with rimmed vacuoles is an autosomal dominant myopathic disorder characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles. Muscle biopsy shows rimmed vacuoles (summary by Bucelli et al., 2015). Clinical Features Bucelli et al. (2015) reported 2 brothers with onset of muscle weakness at ages 52 and 42 years, respectively. Both developed ankle dorsiflexion weakness and had difficulties raising the arms above the head.
A number sign (#) is used with this entry because of evidence that Nonaka myopathy (NM) is caused by homozygous or compound heterozygous mutation in the gene encoding UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE; 603824) on chromosome 9p13. Clinical Features Nonaka et al. (1981) described a form of muscular dystrophy with predilection for distal muscles, especially the anterior tibial muscles, and onset in early adulthood. The EMG demonstrated a myopathic pattern and creatine phosphokinase (CPK) was mildly elevated. Rapid clinical progression was observed. Nonaka et al. (1981) thought the disorder in their families was autosomal recessive. They stated that the disorder appears to be common in Japan. Argov and Yarom (1984) described a 'rimmed vacuole myopathy' in Jews of Persian origin.
Springer Science & Business Media. v t e Metal deficiency and toxicity disorders Iron excess: Iron overload Hemochromatosis Hemochromatosis/HFE1 Juvenile/HFE2 HFE3 African iron overload/HFE4 Aceruloplasminemia Atransferrinemia Hemosiderosis deficiency: Iron deficiency Copper excess: Copper toxicity Wilson's disease deficiency: Copper deficiency Menkes disease / Occipital horn syndrome Zinc excess: Zinc toxicity deficiency: Acrodermatitis enteropathica Other Inborn errors of metabolism
Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.
For example, familial hemiplegic migraine and sporadic hemiplegic migraine are characterized by migraine with associated temporary weakness that affects one side of the body (hemiparesis). Additionally, cyclic vomiting syndrome is a migraine disorder usually found in children that causes episodes of nausea and vomiting in addition to headaches.
For a phenotypic description and discussion of genetic heterogeneity of migraine headaches, see MGR1 (157300). Migraine is the most common type of chronic episodic headache. Population-based family studies had suggested a strong genetic predisposition to migraine, especially migraine with aura (MA). GABA-A receptors (see 137192) and their modulator sites seem to be involved in the pathophysiologic events that underlie migraine. Russo et al. (2005) reported clinical and molecular data from 10 families with MA, in which MA segregated as an autosomal dominant trait and presented with homogeneous clinical features. After excluding linkage with the known candidate loci, Russo et al. (2005) used a functional candidate approach and genotyped the 10 families with markers from the 15q11-q13 genomic region, which contains genes encoding GABA-A receptor subunits.
Specifically, they have a higher-than-average chance of developing myelodysplastic syndrome (MDS), which is a disorder in which immature blood cells fail to develop normally.
Jarry et al. (2007) referred to Boddie and Stewart-Wynne (1974), who concluded that so-called 'quadriceps myopathy' is not a distinct disease entity but rather a clinical syndrome with heterogeneous pathologic bases.
A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.
A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. Epidemiology Prevalence is unknown. Only 14 cases have been reported to date. Clinical description Disease onset occurs in late adolescence or early adulthood (usually before the age of 30) and usually presents with parkinsonism (tremor, rigidity, bradykinesia), dystonia and rapid cognitive decline. Eye movement abnormalities (supranuclear vertical gaze palsy, eyelid opening apraxia), pyramidal tract signs, and psychiatric features such as depression and personality changes have also been reported in some patients. Dopaminergic treatment is initially successful with regard to parkinsonism, but the development of prominent dyskinesias often follows.
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.
A brother and sister from 1 family had oligodontia and sparse body hair and eyebrows as their only manifestations, and a female proband from another family had cysts of the eyelids in addition to hypodontia, hypotrichosis, palmoplantar keratosis, and dystrophic nails (Schopf-Schulz-Passarge syndrome; 224750). Three patients had photophobia, which was previously described in a patient with OODD by Zirbel et al. (1995).
A rare predominantly large-vessel vasculitis that is characterized by affected aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm. Epidemiology Takayasu arteritis (TAK) prevalence has been estimated to be 13 to 40 per million habitants. Cases have been reported worldwide but TAK seems to be more frequent in asians. A high female-to-male sex ratio is well documented. Clinical description TAK generally presents before 40 years, although rare pediatric cases are found. Active periods of inflammation may present with non-specific features such as headache, malaise, palpitations, night sweats, polyarthralgia or arthritis, erythema nodosum-like or ulcerating nodular cutaneous lesions fever, fatigue, and weight loss.
Overview Takayasu's arteritis (tah-kah-YAH-sooz ahr-tuh-RIE-tis) is a rare type of vasculitis, a group of disorders that causes blood vessel inflammation. In Takayasu's arteritis, the inflammation damages the large artery that carries blood from your heart to the rest of your body (aorta) and its main branches. The disease can lead to narrowed or blocked arteries, or to weakened artery walls that may bulge (aneurysm) and tear. It can also lead to arm or chest pain, high blood pressure, and eventually heart failure or stroke. If you don't have symptoms, you may not need treatment. But most people with the disease need medications to control inflammation in the arteries and to prevent complications.
Takayasu arteritis is a condition that causes inflammation of the main blood vessel that carries blood from the heart to the rest of the body ( aorta ) and its associated branched blood vessels. As a result of the inflammation, the blood vessel walls become thick and make it difficult for blood to flow. Over time, impaired blood flow causes damage to the heart and various other organs of the body. Although the cause remains unknown, Takayasu arteritis appears to be an autoimmune condition, in which cells that fight infection and disease are wrongly targeted against the body's own tissues.
Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because anencephaly is caused by abnormalities of the neural tube, it is classified as a neural tube defect. Because the neural tube fails to close properly, the developing brain and spinal cord are exposed to the amniotic fluid that surrounds the fetus in the womb.
A neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days. Epidemiology Its prevalence at birth ranges from 1 in 5000 to 1 in 2000. The prevalence at birth displays an unequal geographical distribution, with especially high rates in the British Isles, China, Mexico and Turkey. This may be attributed to the genetic backgrounds of the populations and to dietary habits.
Anencephaly is a type of neural tube defect characterized by abnormal development of the brain and the bones of the skull. The neural tube is a narrow channel that normally folds and closes between the 3rd and 4th weeks of pregnancy, forming the brain and spinal cord of the embryo. Anencephaly occurs when the 'cephalic' or head end of the neural tube fails to close, causing the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed (not covered by bone or skin).
2-aminoadipic 2-oxoadipic aciduria is a rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder. Frequently, individuals are completely without clinical phenotype.
Alpha-aminoadipic and alpha-ketoadipic aciduria Causes Mutations in DHTKD1 Alpha-aminoadipic and alpha-ketoadipic aciduria is an autosomal recessive metabolic disorder characterized by an increased urinary excretion of alpha-ketoadipic acid and alpha-aminoadipic acid . It is caused by mutations in DHTKD1 , which encodes the E1 subunit of the oxoglutarate dehydrogenase complex (alpha-ketoglutarate dehydrogenase complex). [1] References [ edit ] ^ Danhauser K, Sauer SW, Haack TB, Wieland T, Staufner C, Graf E, Zschocke J, Strom TM, Traub T, Okun JG, Meitinger T, Hoffmann GF, Prokisch H, Kölker S (Dec 2012). "DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria" . American Journal of Human Genetics . 91 (6): 1082–7. doi : 10.1016/j.ajhg.2012.10.006 . PMC 3516599 . PMID 23141293 . This biochemistry article is a stub . You can help Wikipedia by expanding it . v t e
The identification of mice with complete HPRT deficiency but without any symptoms of the Lesch-Nyhan syndrome (300322) (Hooper et al., 1987; Kuehn et al., 1987) raised the possibility that the absence of urate oxidase activity in the purine metabolism pathway may contribute to the development of the neurologic symptoms observed in humans (see 308000).
Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.
The combination of ichthyosis, intellectual disability, and spastic quadriplegia in these patients was reminiscent of Sjogren-Larsson syndrome (SLS; 270200). Inheritance The transmission pattern of ISQMR in the families reported by Aldahmesh et al. (2011) was consistent with autosomal recessive inheritance.
Retrieved 23 May 2013 . v t e HIV/AIDS in South America Sovereign states Argentina Bolivia Brazil Chile Colombia Ecuador Guyana Paraguay Peru Suriname Uruguay Venezuela Dependencies and other territories Falkland Islands French Guiana South Georgia and the South Sandwich Islands v t e HIV / AIDS topics HIV/AIDS HIV HIV Lentivirus structure and genome subtypes CDC classification disease progression rates HIV/AIDS diagnosis management pathophysiology prevention research vaccination PrEP WHO disease staging system for HIV infection and disease Children Teens / Adults Countries by AIDS prevalence rate Conditions Signs and symptoms AIDS-defining clinical condition Diffuse infiltrative lymphocytosis syndrome Lipodystrophy Nephropathy Neurocognitive disorders Pruritus Superinfection Tuberculosis co-infection HIV Drug Resistance Database Innate resistance to HIV Serostatus HIV-positive people Nutrition Pregnancy History History Epidemiology Multiple sex partners Timeline AIDS Museum Timothy Ray Brown Women and HIV/AIDS Social AIDS orphan Catholic Church and HIV/AIDS Circumcision and HIV Criminal transmission Discrimination against people Economic impact Cost of treatment HIV-affected community HIV/AIDS activism HIV/AIDS denialism Red ribbon Safe sex Sex education List of HIV-positive people People With AIDS Self-Empowerment Movement HIV/AIDS in the porn industry Culture Discredited HIV/AIDS origins theories International AIDS Conference International AIDS Society Joint United Nations Programme on HIV/AIDS (UNAIDS) Media portrayal of HIV/AIDS Misconceptions about HIV/AIDS President's Emergency Plan for AIDS Relief (PEPFAR) The SING Campaign Solidays Treatment Action Campaign World AIDS Day YAA/Youthforce "Free Me" Larry Kramer Gay Men's Health Crisis ACT UP Silence=Death Project HIV/AIDS pandemic by region / country Africa Angola Benin Botswana Democratic Republic of the Congo Egypt Eswatini Ethiopia Ghana Guinea Côte d'Ivoire (Ivory Coast) Kenya Lesotho Madagascar Malawi Mali Mozambique Namibia Niger Nigeria Rwanda Senegal Tanzania South Africa Uganda Zambia Zimbabwe North America Canada Mexico El Salvador Guatemala Honduras Nicaragua United States New York City Caribbean Haiti Jamaica Dominican Republic South America Bolivia Brazil Colombia Guyana Peru Asia Afghanistan Armenia Azerbaijan Bahrain Bangladesh Bhutan Cambodia China (PRC) ( Yunnan ) East Timor India Indonesia Iran Iraq Japan Jordan North Korea Laos Malaysia Myanmar (Burma) Nepal Pakistan Philippines Saudi Arabia Sri Lanka Taiwan (ROC) Thailand United Arab Emirates Turkey Vietnam Europe United Kingdom Russia Ukraine Oceania Australia New Zealand Papua New Guinea List of countries by HIV/AIDS adult prevalence rate List of HIV/AIDS cases and deaths registered by region
The boys also exhibited distinctive facial dysmorphism that did not appear to fit any known syndrome and involved frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis, anteverted nares, and flat nasal bridge.