NationMaster - Encyclopedia: Familial dysautonomia

Familial dysautonomia, or FD, is a disorder of the autonomic nervous system which affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms including: insensitivity to pain, inability to produce tears, poor growth, and labile blood pressure (episodic hypertension and postural hypotension). People with FD have frequent vomiting crises, pneumonia, problems with speech and movement, difficulty swallowing, inappropriate perception of heat, pain, and taste, as well as unstable blood pressure and gastrointestinal dysmotility. FD does not affect intelligence. Originally reported by Riley, et al. in 1949, FD is one example of a group of disorders known as hereditary sensory and autonomic neuropathies HSAN. All HSAN are characterized by widespread sensory dysfunction and variable autonomic dysfunction caused by incomplete development of sensory and autonomic neurons. The disorders are believed to be genetically distinct from each other. Image File history File links No higher resolution available. ... It has been suggested that this article or section be merged into Dominance relationship. ... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ... // G00-G99 - Diseases of the nervous system (G00-G09) Inflammatory diseases of the central nervous system (G00) Bacterial meningitis, not elsewhere classified (G01) Meningitis in bacterial diseases classified elsewhere (G02) Meningitis in other infectious and parasitic diseases classified elsewhere (G03) Meningitis due to other and unspecified causes (G04) Encephalitis, myelitis... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... This article or section is in need of attention from an expert on the subject. ... Neurons (also called nerve cells) are the primary cells of the nervous system. ... The Human Nervous System The nervous system of an animal coordinates the activity of the muscles, monitors the organs, constructs and also stops input from the senses, and initiates actions. ... Hereditary Sensory and Autonomic Neuropathy is a condition used to describe one of seven diseases which prevents one from feeling actual pain although they can feel other sensations through touch. ...

Incidence

FD is seen almost exclusively in Ashkenazi Jews and is inherited in an autosomal recessive fashion. Both parents must be carriers in order for a child to be affected. The carrier frequency in Jewish individuals of Eastern European (Ashkenazi) ancestry is about 1/30, while the carrier frequency in non-Jewish individuals is about 1/3000. If both parents are carriers, there is a one in four, or 25%, chance with each pregnancy for an affected child. Genetic counseling and genetic testing is recommended for families who may be carriers of familial dysautonomia. Ashkenazi Jews, also known as Ashkenazic Jews or Ashkenazim (×Ö·×©×Ö°×›Ö¼Ö²× Ö¸×–Ö´×™ ×Ö·×©×Ö°×›Ö¼Ö²× Ö¸×–Ö´×™× Standard Hebrew, AÅ¡kanazi,AÅ¡kanazim, Tiberian Hebrew, Ê¾AÅ¡kÄƒnÄzÃ®, Ê¾AÅ¡kÄƒnÄzÃ®m, pronounced sing. ... In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ... Genetic counseling is the process by which patients or relatives, at risk of an inherited disorder, are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning in order to prevent, avoid or... Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a persons ancestry. ...

There have been 590 cases in total. Currently there are 350 people living with this condition worldwide.

Etiology

Familial Dysautonomia, is the result of mutations in IKBKAP gene on chromosome 9, which encodes for the IKAP protein (IkB kinase complex associated protein). There have been three mutations in IKBKAP identified in individuals with FD. The most common FD-causing mutation occurs in intron 20 of the donor gene. Conversion of T-->C in intron 20 of the donor gene resulted in shift splicing that generates an IKAP transcript lacking exon 20. Translation of this mRNA results in a truncated protein lacking all of the amino acids encoded in exons 20-37. Another less common mutation is a G-->C conversion resulting in one amino acid mutation in 696, where Proline substitutes normal Arginine. The decreased amount of functional IKAP protein in cells causes Familial Dysautonomia. IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein) is a human gene that provides instructions to make the IKAP protein, which is found in a variety of cells throughout the body, including brain cells. ... Chromosome 9 is one of the 23 pairs of chromosomes in humans. ... Diagram of the location of introns and exons within a gene. ... An exon is any region of DNA within a gene, that is transcribed to the final messenger RNA (mRNA) molecule, rather than being spliced out from the transcribed RNA molecule. ... L-Proline is one of the twenty proteinogenic units which are used in living organisms as the building blocks of proteins. ... Arginine (symbol Arg or R) is an Î±-amino acid. ...

Diagnosis

Symptoms

Corneal abrasion is a medical condition involving the loss of the surface epithelial layer of the eyes cornea. ... The Human Nervous System The nervous system of an animal coordinates the activity of the muscles, monitors the organs, constructs and also stops input from the senses, and initiates actions. ... A sphygmomanometer, a device used for measuring blood pressure. ... Vomiting (also throwing up or emesis) is the forceful expulsion of the contents of ones stomach through the mouth and sometimes the nose. ... A sphygmomanometer, a device used for measuring blood pressure. ... Sweat redirects here. ... Drooling (also known as ptyalism) is when saliva flows outside the mouth. ...

Clinical Diagnosis

Ashkenazi Jews, also known as Ashkenazic Jews or Ashkenazim (×Ö·×©×Ö°×›Ö¼Ö²× Ö¸×–Ö´×™ ×Ö·×©×Ö°×›Ö¼Ö²× Ö¸×–Ö´×™× Standard Hebrew, AÅ¡kanazi,AÅ¡kanazim, Tiberian Hebrew, Ê¾AÅ¡kÄƒnÄzÃ®, Ê¾AÅ¡kÄƒnÄzÃ®m, pronounced sing. ...

Genetic Testing

Genetic testing is performed on a small sample of blood from the tested individual. The DNA is examined with a designed probe specific to the known mutations. The accuracy of the test is above 99%. The structure of part of a DNA double helix Deoxyribonucleic acid (DNA) is a nucleic acid that contains the genetic instructions for the development and function of living organisms. ...

Prenatal Testing

Familial Dysautonomia is inherited in an autosomal recessive pattern, which means 2 copies of the gene in each cell are altered. If both parents are shown to be carriers by generic testing, there is a 25% chance that the child will produce FD. Prenatal diagnosis for pregnancies at increased risk for FD by amniocentesis (for 14-17 weeks) or chorionic villus sampling (for 10-11 weeks) is possible. In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ... Amniocentesis, or an Amniotic Fluid Test (AFT), is a medical procedure used for prenatal diagnosis, in which a small amount of amniotic fluid is extracted from the amnion around a developing fetus. ... Chorionic villus sampling (CVS) is a form of prenatal diagnosis to determine genetic abnormalities in the fetus. ...

Treatment and Treatment Locations

There currently is no cure for FD and death occurs in 50% of affected individuals by age 30. There are only two treatment centers One at New York University Hospital Dysautonomia Treatment and Evaluation Center and one at the Hadassah Hospital Familial Dysautonomia Center. One is being planned for the San Francisco area Forward Article

The survival rate and quality of life has increased since the mid 80's mostly due to greater understanding of the most dangerous symptoms. At present, FD patients can be expected to function independently if treatment is begun early and major disabilities avoided.

A major issue has been Aspiration Pneumonias, where food or regurgitated stomach content would be aspirated into the lungs causing infections. Fundoplacations (by preventing regurgitation) and gastrostomy tubes (to provide non oral nutrition) have reduced the frequency of hospitalization. Nissen fundoplication is a surgical procedure to treat gastroesophageal reflux disease (GERD) and hiatus hernia. ...

Other issues which can be treated include FD Crises, Scoliosis, and various eye conditions due to limited or no tears.

An FD crisis is the body's loss of control of various Autonomic nervous system functions including blood pressure, heartrate, and body temperature. Both short term and chronic periodic high or low blood pressure have consequences and medication is used to stabilize blood pressure. This article or section is in need of attention from an expert on the subject. ...

Treatment of Manifestations

Although the FD-causing gene has been identifies and it seems to have tissue specific expression, there is no definitive treatment at present. Treatment of FD remains preventative, symptomatic and supportive. FD does not express itself in a consistent manner. The type and severity of symptoms displayed vary among patients and even at different ages on the same patients. So patients should have specialized individual treatment plans. Medications are used to control vomiting, eye dryness, and blood pressure. There are some commonly needed treatments including: A sphygmomanometer, a device used for measuring blood pressure. ...

Physical therapy can help restore lost functionality in many people. ... Wikipedia does not yet have an article with this exact name. ... Pneumonia is an illness of the lungs and respiratory system in which the alveoli (microscopic air-filled sacs of the lung responsible for absorbing oxygen from the atmosphere) become inflamed and flooded with fluid. ... Diazepam (IPA: ), marketed under brand names Valium, Stesolid, Diazemuls, Seduxen, Bosaurin, Diapam, Antenex, Ducene and Apozepam)[1] is a drug which is a benzodiazepine derivative. ... Orthostatic hypotension (also known as postural hypotension and, colloquially, as head rush) is a sudden fall in blood pressure, typically greater than 20/10 mm Hg, that occurs when a person assumes a standing position. ... Fludrocortisone acetate is a synthetic corticosteroid with moderate glucocorticoid potency and much greater mineralocorticoid potency. ...

Therapies under investigation

It is noted that in cell lines derived from heterozygous carriers of FD who display a normal phenotype, there are decreased levels of the wild-type IKAP transcript and also functional IKAP protein respectively. This would suggest that increasing the amount of the wild-type IKAP transcript may improve the manifestation in patients with FD. Application of tocotrienols in the treatment of FD was initiated in the FD research lab at Fordham University in Bronx. In vitro supplementation of tocotrienols elevated the expression of IKAP transcripts as well as the amount of induced functional IKAP protein in homozygous cell lines derived from FD patients. This observed result further suggests the value of therapeutic approaches to lessen suffered symptoms of FD patients by elevating cellular level of functional IKAP which can be induced by tocotrienols. Heterozygote cells are diploid or polyploid and have different alleles at a locus (position) on homologous chromosomes. ... Chemical structure of Tocotrienol Tocotrienols â€“ Together with Tocopherols, compose the vitamin E family. ... Chemical structure of Tocotrienol Tocotrienols â€“ Together with Tocopherols, compose the vitamin E family. ... Homozygote cells are diploid or polyploid and have the same alleles at a locus (position) on homologous chromosomes. ... Chemical structure of Tocotrienol Tocotrienols â€“ Together with Tocopherols, compose the vitamin E family. ...

One form of therapy under investigation is electrolyte therapy for refractory seizures common among FD carriers. See Ceralyte^[1] An electrolyte is a substance containing free ions which behaves as an electrically conductive medium. ... Manufactured by Cera Products Inc, CeraLyte is a rice-based oral rehydration solution (ORS) for diarrhea and dehydration. ...

Prognosis

The outlook for patients with FD depends on the particular diagnostic category. Patients with chronic, progressive, generalized dysautonomia in the setting of central nervous system degeneration have a generally poor long-term prognosis. Death can occur from pneumonia, acute respiratory failure, or sudden cardiopulmonary arrest in such patients. Educate parents and patients regarding daily eye care and early warning signs of corneal problems as well as use of punctual cautery. This education has resulted in decreased corneal scarring and need for more aggressive surgical measures such as tarsorrhaphy, conjunctival flaps, and corneal transplants. Dysautonomia is any disease or malfunction of the autonomic nervous system. ... Prognosis (older Greek Ï€ÏÏŒÎ³Î½Ï‰ÏƒÎ¹Ï‚, modern Greek Ï€ÏÏŒÎ³Î½Ï‰ÏƒÎ· - literally fore-knowing, foreseeing) is a medical term denoting the doctors prediction of how a patients disease will progress, and whether there is chance of recovery. ... Pneumonia is an illness of the lungs and respiratory system in which the alveoli (microscopic air-filled sacs of the lung responsible for absorbing oxygen from the atmosphere) become inflamed and flooded with fluid. ... Tarsorrhaphy is a surgical procedure in which the eyelids are partially sewn together to narrow the opening. ... Cornea Transplant A cornea transplant, also known as a corneal graft or penetrating keratoplasty, is a surgical procedure where a damaged or diseased cornea is replaced by a donor. ...

The Future

In January of 2001, researchers at Massachusetts General Hospital isolated the FD gene, a discovery that opens the door to many diagnostic and treatment possibilities. Massachusetts General Hospital (often abbreviated to Mass General or just MGH) is a teaching hospital of Harvard Medical School and biomedical research facility in Boston, Massachusetts. ...

Although it probably won't happen for five or 10 years, some expect that stem-cell therapy will result. Eventually, treatment could be given in utero.

While that may be years ahead, genetic screening became available around April 2001, enabling Ashkenazi Jews to find out if they are carriers.

In the mean time more research into treatments are being funded by the foundations that exist. These foundation are organized and run by parents of those with FD. There is very limited governmental support beyond recognizing those diagnosed with FD as eligible for certain programs.

References

Footnotes

See also

Congenital insensitivity to pain (or congenital analgia) is a rare condition where a child cannot feel (and has never felt) physical pain. ... Hereditary Sensory and Autonomic Neuropathy is a disease which prevents one from feeling actual pain although they can feel other sensations through touch. ...

External links

Categories: Genetic disorders | Neurology Who Named It is a Norwegian database of several thousand eponymous medical signs and the doctors associated with their identification. ... The Collaborative Hypertext of Radiology (or CHORUS) is a reference database that is free of use. ... The Human Nervous System The nervous system of an animal coordinates the activity of the muscles, monitors the organs, constructs and also stops input from the senses, and initiates actions. ... Pathology (from Greek pathos, feeling, pain, suffering; and logos, study of; see also -ology) is the study of the processes underlying disease and other forms of illness, harmful abnormality, or dysfunction. ... Meningitis is the inflammation of the protective membranes covering the central nervous system, known collectively as the meninges. ... Encephalitis is an acute inflammation of the brain, commonly caused by a viral infection. ... Myelitis is a human disease involving swelling of the spinal cord, which disrupts central nervous system functions linking brain and limbs. ... Encephalomyelitis is a general term for inflammation of the brain and spinal cord, describing a number of disorders: acute disseminated encephalomyelitis or postinfectious encephalomyelitis, a demyelinating disease of the brain and spinal cord, possibly triggered by vaccination or viral infection; encephalomyelitis disseminata, a synonym for multiple sclerosis; equine encephalomyelitis, a... Acute disseminated encephalomyelitis (ADEM) is an immune mediated disease of brain. ... Tropical spastic paraparesis (TSP) is an infection of the spinal cord by Human T-lymphotropic virus resulting in paraparesis or weakness of the legs. ... Spinocerebellar ataxia (SCA) is a genetic disease with multiple types, each of which could be considered a disease in its own right. ... Friedreichs ataxia is a rare autosomal recessive disorder caused by a mutation in Gene X25 that codes for frataxin, located on chromosome 9. ... Ataxia-telangiectasia (AT) (Boder-Sedgwick syndrome or Louis-Bar syndrome) is a primary immunodeficiency disorder that occurs in an estimated incidence of 1 in 40,000 to 1 in 300,000 births (Lederman, 2000). ... Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and stiffness of the legs. ... Spinal Muscular Atrophy (SMA) is a term applied to a number of different disorders, all having in common a genetic cause and the manifestation of weakness due to loss of the motor neurons of the spinal cord and brainstem. ... Werdnig-Hoffman disease (or Infantile spinal muscular atrophy, type I) is an autosomal recessive muscular disease. ... Fazio Londe Syndrome is an inherited motor neuron disease found in children and young adults. ... Kugelberg-Welander disease (or juvenile spinal muscular atrophy, type III) is an autosomal recessive muscular disease. ... The motor neurone diseases (MND) are a group of progressive neurological disorders that destroy motor neurones, the cells that control voluntary muscle activity such as speaking, walking, breathing, and swallowing. ... Amyotrophic lateral sclerosis (ALS, sometimes called Lou Gehrigs disease, Maladie de Charcot or motor neurone disease) is a progressive, fatal neurodegenerative disease caused by the degeneration of motor neurons. ... Primary lateral sclerosis (PLS) is a rare neuromuscular disease characterized by progressive muscle weakness in the voluntary muscles. ... Progressive bulbar palsy is a form of motor neuron disease characterized by dysfunction of the muscles controlled by the cranial nerves of the lower brain stem (the bulb) -- specifically, the glossopharyngeal nerve (IX), vagus nerve (X), and hypoglossal nerve (XII). ... Neuroleptic malignant syndrome (NMS) is a life-threatening, neurological disorder most often caused by an adverse reaction to neuroleptic or antipsychotic drugs. ... This disease is believed to have been caused by a viral illness, stimulating degeneration of the nerve cells in the substantia nigra, leading to clinical parkinsonism. ... Progressive supranuclear palsy (PSP) (or the Steele-Richardson-Olszweski syndrome, after the Canadian physicians who described it in 1963 ) is a rare degenerative disorder involving the gradual deterioration and death of selected neurons in the brain. ... Striatonigral degeneration refers to a form of multiple system atrophy involving the loss of connections between two areas of the brain, the striatum and the substantia nigra, which work together to ensure smooth movement and maintain balance. ... Dystonia (literally, abnormal muscle tone) is a generic term used to describe a neurological movement disorder involving involuntary, sustained muscle contractions. ... Torticollis, or wry neck, is a condition in which the head is tilted toward one side, and the chin is elevated and turned toward the opposite side. ... Meiges syndrome is a type of dystonia, also known as oral facial dystonia or hemifacial spasm, the main symptoms of which involve involuntary blinking and chin thrusting. ... A blepharospasm (from blepharo (eyelid) and spasm (uncontrolled muscle contraction)) is any abnormal tic or twitch of the eyelid. ... This article or section does not cite its references or sources. ... Myoclonus is brief, involuntary twitching of a muscle or a group of muscles. ... Restless legs syndrome (RLS, or Wittmaack-Ekboms syndrome) is poorly understood, often misdiagnosed, and believed to be a neurological disorder. ... Stiff person syndrome (SPS) (or occasionally, stiff-man syndrome) is a rare neurologic disorder of unknown etiology. ... Central pontine myelinolysis is a neurologic disease caused by severe damage of the myelin sheath of nerve cells in the brainstem, more precisely in the area termed the pons. ... Seizures are temporary abnormal electro-physiologic phenomena of the brain, resulting in abnormal synchronization of electrical neuronal activity. ... Focal seizures (also called partial seizures) are seizures which are characterized by: preserved consciousness in simple focal seizures impaired consciousness (dream-like) in complex focal seizures experience of unusual feelings or sensations sudden and inexplainable feelings of joy, anger, sadness, or nausea altered sense of hearing, smelling, tasting, seeing, or... Complex partial seizures are epileptic attacks which involve a greater degree of impairment of consciousness than simple partial seizures. ... In medicine, there are many kinds of generalized seizures. ... Atonic seizures (also called drop seizures, drop attacks, or akinetic seizures), are a minor type of seizure. ... Lennox-Gastaut syndrome (LGS), also known as Lennox syndrome, is a difficult to treat form of childhood-onset epilepsy, that most often appears between the second and sixth year of life and is characterized by frequent seizures and different seizure types and is often accompanied by mental retardation and behavior... West syndrome, otherwise known as infantile spasms, is an uncommon to rare and serious form of epilepsy in infants. ... Epilepsia partialis continua is a rare type of recurrent motor epileptic seizures that are focal (hands and face), and recur every few seconds or minutes for extended periods (days or years). ... A headache is a condition of pain in the head; sometimes neck or upper back pain may also be interpreted as a headache. ... Cluster headaches are rare, extremely painful and debilitating headaches that occur in groups or clusters. ... A vascular headache is a headache where blood vessel swelling or disturbance is causing the pain. ... Tension headaches, which were recently renamed tension-type headaches by the International Headache Society, are the most common type of headaches. ... Amaurosis fugax is a type of transient ischaemic attack (TIA). ... Fovilles syndrome is caused by the blockage of the perforating branches of the basilar artery in the region of the brainstem known as the pons. ... Millard-Gubler syndrome is a syndrome of unilateral softening of the brain tissue arising from obstruction of the blood vessels of the pons, involving the sixth and seventh cranial nerves and fibers of the corticospinal tract, and is associated with paralysis of the abducens (including diplopia, internal strabismus, and loss... Lateral medullary syndrome (also called Wallenbergs syndrome) is a disease in which the patient has difficulty with swallowing or speaking or both owing to one or more patches of dead tissue (known as an infarct) caused by interrupted blood supply to parts of the brain. ... Webers Syndrome (superior alternating hemiplegia) is characterized by the presence of an oculomotor nerve palsy and contralateral hemiparesis or hemiplegia. ... This article is about the sleeping disorder. ... Hypersomnia, also known as excessive daytime sleepiness (EDS), is excessive amount of sleepiness. ... Sleep apnea or sleep apnoea is a sleep disorder characterized by pauses in breathing during sleep. ... Narcolepsy is a neurological condition most characterized by Excessive Daytime Sleepiness (EDS). ... Cataplexy is a medical condition which often affects people who have narcolepsy, a disorder whose principal signs are EDS (Excessive Daytime Sleepiness), sleep attacks, and disturbed nighttime sleep. ... Trigeminal neuralgia, or Tic Douloureux, is a neuropathic disorder of the trigeminal nerve that causes episodes of intense pain in the eyes, lips, nose, scalp, forehead, and jaw. ... Bells palsy (facial palsy) is characterised by facial drooping on the affected half, due to malfunction of the facial nerve (VII cranial nerve), which controls the muscles of the face. ... Thoracic outlet syndrome (TOS) consists of a group of distinct disorders that affect the nerves in the brachial plexus (nerves that pass into the arms from the neck) and various nerves and blood vessels between the base of the neck and axilla (armpit). ... This article is about the syndrome. ... Mononeuropathy (or mononeuritis) is a type of neuropathy that only affects a single peripheral or cranial nerve. ... This article is about the medical condition. ... Meralgia paraesthetica or meralgia paresthetica (see spelling differences) (me-ral-gee-a par-es-thet-i-ka) is numbness or pain in the outer thigh not caused by injury to the thigh, but by injury to a nerve that extends from the thigh to the spinal column. ... Tarsal tunnel syndrome is a painful foot condition in which the tibial nerve is impinged and compressed as it travels though the tarsal tunnel. ... Charcot-Marie-Tooth disease, known also as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms in... Dejerine-Sottas Syndrome/Neuropathy (hereditary motor and sensory polyneuropathy type III; sometimes also described as a subtype III of Charcot-Marie-Tooth disease) is an autosomal dominant or autosomal recessive neuropathy. ... Refsums Disease is an autosomal recessive (Chromosome 10) neurological disease that results in the malformation of myelin sheaths around nerve cells. ... Morvans syndrome (or fibrillary chorea) is a rare disease named after nineteenth century French physician Augustin Marie Morvan (1819-1897). ... Guillain-BarrÃ© syndrome (GBS) is an acute, autoimmune, polyradiculoneuropathy affecting the peripheral nervous system, usually triggered by an acute infectious process. ... Polyneuropathy is a neurological disorder that occurs when many peripheral nerves throughout the body malfunction simultaneously. ... Alcoholic polyneuropathy is a neurological disorder in which many peripheral nerves throughout the body malfunction simultaneously (a polyneuropathy). ... Myasthenia gravis (sometimes abbreviated MG; from the Greek myastheneia, lit. ... Muscular Dystrophy is a genetic condition that describes over 20 genetic and hereditary muscle diseases. ... Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. ... Myotonia congenita is a genetic, neuromuscular disorder characterized by the slow relaxation of the muscles. ... Thomsen disease, a form of Myotonia congenita, is a muscular genetic disorder characterized by muscle stiffness (cramp) and an inability of the muscle to relax after a voluntary contraction. ... Neuromyotonia is spontaneous muscular activity resulting from repetitive motor unit action potentials of peripheral origin. ... Paramyotonia congenita is a rare congenital neuromuscular disorder which is characterized by a condition in which the muscles do not relax after contracting (myotonia). ... Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally located in skeletal muscle cells. ... Periodic paralysis is a rare group of genetic diseases that lead to weakness or paralysis (rarely death) from common triggers such as cold, heat, high carbohydrate meals, not eating, stress or excitement and physical activity of any kind. ... Hypokalemic periodic paralysis is characterized by a fall in potassium levels in the blood. ... Hyperkalemic periodic paralysis (HYPP), also known as Impressive Syndrome, is an inherited autosomal dominant disorder which affects sodium channels in muscle cells and the ability to regulate potassium levels in the blood of horses. ... Lambert-Eaton myasthenic syndrome (LEMS) is a rare disorder of nerve-muscle (neuromuscular) junction. ... Cerebral palsy (CP) is an umbrella term encompassing a group of non-progressive, non-contagious neurological disorders that cause physical disability in human development, specifically the human movement and posture. ... Paralysis is the complete loss of muscle function for one or more muscle groups. ... Spastic paraplegia is a form of paraplegia defined by spasticity of the affected muscles, rather than paralysis. ... Paraplegia is a condition in which the lower part of a persons body is paralyzed and cannot willfully function. ... Quadriplegia, also known as tetraplegia, is a symptom in which a human experiences paralysis of all four limbs, although not necessarily total paralysis. ... Diplegia is a form of paralysis affecting one part of the body and the corresponding part on the other side of the body (i. ... In medicine, a Monoplegia is a paralysis of a single limb. ... Cauda equina syndrome is a serious neurologic condition in which there is compression of the vertebral column (spine) affecting the S1-S4 nerve roots. ... Peripheral neuropathy is the medical term for damage to nerves of the peripheral nervous system, which may be caused either by diseases of the nerve or from the side-effects of systemic illness. ... Horners syndrome is a clinical syndrome caused by damage to the sympathetic nervous system. ... Multiple system atrophy (MSA) is a degenerative neurological disorder characterized by a combination of the following: Progressive damage to the autonomic nervous system, commonly leading to low blood pressure upon standing, difficulty urinating, and/or abnormal breathing during sleep Muscle rigidity +/- tremor and slow movement (Parkinsonism) Poor coordination / unsteady walking... Shy-Drager syndrome (named after Dr. Milton Shy and Dr. Glenn Drager, who identified this syndrome in 1960) is a rare, progressively degenerative disease of the autonomic nervous system. ... Normal pressure hydrocephalus (NPH) is a chronic type of communicating hydrocephalus whereby the increase in intracranial pressure (ICP) due to accumulation of cerebrospinal fluid (CSF) becomes stable and that the formation of CSF equilibrates with absorption. ... Idiopathic intracranial hypertension (IIH), sometimes called benign intracranial hypertension (BIH) or pseudotumor cerebri (PTC) is a neurological disorder that is characterized by increased intracranial pressure (ICP), in the absence of a tumor or other intracranial pathology. ... Encephalopathy is a container term for various conditions affecting the brain. ... Herniation, a deadly side effect of very high intracranial pressure, occurs when the brain shifts across structures within the skull. ... Cerebral edema is swelling of the brain which can occur as the result of a head injury, cardiac arrest or from the lack of proper altitude acclimatization. ... Reyes syndrome is a potentially fatal disease that causes numerous detrimental effects to many organs, especially the brain and liver. ... An uncollapsed syrinx (before surgery). ... Syringobulbia is a medical condition when syrinxes, or fluid filled cavities, affect the brainstem. ... Spinal cord compression develops when the spinal cord is compressed by a tumor, abscess or other lesion. ...

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