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Ataxia-Telangiectasia

Definition

Ataxia-telangiectasia (A-T), also called Louis-Bar syndrome, is a rare, genetic neurological disorder of childhood that progressively destroys part of the motor control area of the brain, leading to a lack of balance and coordination. A-T also affects the immune system and increases the risk of leukemia and lymphoma in affected individuals.

Description

The disorder first appeared in the medical literature in the mid-1920s, but was not named specifically until 1957. The name is a combination of two recognized abnormalities: ataxia (lack of muscle control) and telangiectasia (abnormal dilatation of capillary vessels that often result in tumors and red skin lesions). However, A-T involves more than just the sum of these two findings. Other associated A-T problems include immune system deficiencies, extreme sensitivity to radiation, and blood cancers.

Medical researchers initially suspected that multiple genes (the units responsible for inherited features) were involved. However, in 1995, mutations in a single large gene were identified as causing A-T. Researchers named the gene ATM for A-T, mutated. Subsequent research revealed that ATM has a significant role in regulating cell division. The symptoms associated with A-T reflect the main role of the AT gene, which is to induce several cellular responses to DNA damage, such as preventing damaged DNA from being reproduced. When the AT gene is mutated into ATM, the signaling networks are affected and the cell no longer responds correctly to minimize the damage.

A-T is very rare, but it occurs in every population world wide, with an estimated frequency of between 1/40,000 and 1/100,000 live births. But it is believed that many A-T cases, particularly those who die at a young age, are never properly diagnosed. Therefore, this disease may actually be much more prevalent. According to the A-T Project Foundation, an estimated 1% (2.5 million in the United States) of the general population carries defective A-T genes. Carriers of one copy of this gene do not develop A-T, but have a significantly increased risk of cancer. This makes the A-T gene one of the most important cancer-related genes identified to date.

— Bethanne Black


 
 
Neurological Disorder:

Ataxia-telangiectasia

Definition

Ataxia-telangiectasia (A-T) is a rare, genetic neurological disorder that progressively affects various systems in the body. Children affected with A-T appear normal at birth; however, the first signs of the disease—usually a lack of balance and slurred speech—often appear between one and two years of age.

Description

The onset of cerebellar ataxia (unsteadiness and lack of coordination) marks the beginning of progressive degeneration of the cerebellum, the part of the brain responsible for motor control (movement). This degeneration gradually leads to a general lack of muscle control, and eventually confines the patient to a wheelchair. Children with A-T become unable to feed or dress themselves without assistance. Because of the worsening ataxia, children with A-T lose their ability to write, and speech also becomes slowed and slurred. Even reading eventually becomes impossible, as eye movements become difficult to control.

Children with A-T usually exhibit another symptom of the disease: telangiectases, or tiny red spider veins (dilated blood vessels). These telangiectases appear in the corners of the eyes—giving the eyes a blood-shot appearance—or on the surfaces of the ears and cheeks exposed to sunlight.

In about 70% of children with A-T, another symptom of the disease is present: an immune system deficiency that usually leads to recurrent respiratory infections. In many patients, these infections can become life threatening. Due to deficient levels of IgA and IgE immunoglobulins—the natural infection-fighting agents in the blood—children with A-T are highly susceptible to lung infections that are resistant to the standard antibiotic treatment. For these patients, the combination of a weakened immune system and progressive ataxia can ultimately lead to pneumonia as a cause of death.

Children with A-T tend to develop malignancies of the blood circulatory system almost 1,000 times more frequently than the general population. Lymphomas (malignant tumors of lymphoid tissues) and leukemias (abnormal overgrowth of white blood cells, causing tumor cells to grow) are particularly common types of cancer, although the risk of developing most types of cancer is high in those with A-T. Another characteristic of the disease is an increased sensitivity to ionizing radiation (high-energy radiation such as x rays), which means that patients with A-T frequently cannot tolerate the radiation treatments often given to cancer patients.

Demographics

Both males and females are equally affected by A-T. Epidemiologists estimate the frequency of A-T as between 1/40,000 and 1/100,000 live births. However, it is believed that many children with A-T, particularly those who die at a young age, are never properly diagnosed. Thus, the disease may occur much more often than reported.

It is also estimated that about 1% (2.5 million) of the American population carry a copy of the defective A-T gene. According to some researchers, these gene carriers may also have an increased sensitivity to ionizing radiation and have a significantly higher risk of developing cancer—particularly breast cancer in female carriers.

Causes and symptoms

Ataxia-telangiectasia is called a recessive genetic disorder because parents do not exhibit symptoms; however, each parent carries a recessive (unexpressed) gene that may cause A-T in offspring. The genetic path of A-T is therefore impossible to predict. The recessive gene may lie dormant for generations until two people with the defective gene have children. When two such A-T carriers have a child together, there is a 1-in-4 chance (25% risk) of having a child with A-T. Every healthy sibling of a child with A-T has a 2-in-3 chance (66% risk) of being a carrier, like his or her parents.

Although there is much variability in A-T symptoms among patients, the signs of A-T almost always include the appearance of ataxia between the ages of two and five. Other, less consistent symptoms may include neurological, cutaneous (skin), and a variety of other conditions.

Neurological

Neurological symptoms of A-T include:

  • progressive cerebellar ataxia (although ataxia may appear static between the ages of two and five)
  • cerebellar dysarthria (slurred speech)
  • difficulty swallowing, causing choking and drooling
  • progressive lack of control of eye movements
  • muscle weakness and poor reflexes
  • initially normal intelligence, sometimes with later regression to mildly retarded range

Cutaneous

Cutaneous symptoms include:

  • progressive telangiectases of the eye and skin develop between two to ten years of age
  • atopic dermatitis (itchy skin)
  • Café au lait spots (pale brown areas of skin)
  • cutaneous atrophy (wasting away)
  • hypo- and hyperpigmentation (under pigmented and overpigmented areas of skin)
  • loss of skin elasticity
  • nummular eczema (coin-shaped inflammatory skin condition)

Other symptoms

Other manifestations of A-T include:

  • susceptibility to neoplasms (tumors or growths)
  • endocrine abnormalities
  • tendency to develop insulin-resistant diabetes in adolescence
  • recurrent sinopulmonary infection (involving the sinuses and the airways of the lungs)
  • characteristic loss of facial muscle tone
  • absence or dysplasia (abnormal development of tissue) of thymus gland
  • jerky, involuntary movements
  • slowed growth
  • prematurely graying hair

Diagnosis

For a doctor who is familiar with A-T, the diagnosis can usually be made on purely clinical grounds and often on inspection. But because most physicians have never seen a case of A-T, misdiagnoses are likely to occur. For example, physicians examining ataxic children frequently rule out A-T if telangiectases are not observed. However, telangiectases often do not appear until the age of six, and sometimes appear at a much older age. In addition, a history of recurrent sinopulmonary infections might increase suspicion of A-T, but about 30% of patients with A-T exhibit no immune system deficiencies.

The most common early misdiagnosis is that of static encephalopathy—a brain dysfunction, or ataxic cerebral palsy—paralysis due to a birth defect. Ataxia involving the trunk and gait is almost always the presenting symptom of A-T. And although this ataxia is slowly and steadily progressive, it may be compensated for—and masked—by the normal development of motor skills between the ages of two and five. Thus, until the progression of the disease becomes apparent, clinical diagnosis may be imprecise or inaccurate unless the patient has an affected sibling.

Once disease progression becomes apparent, Friedreich ataxia (a degenerative disease of the spinal cord) becomes the most common misdiagnosis. However, Friedreich ataxia usually has a later onset. In addition, the spinal signs involving posterior and lateral columns along the positive Romberg's sign (inability to maintain balance when the eyes are shut and feet are close together) distinguish this type of spinal ataxia from the cerebellar ataxia of A-T.

Distinguishing A-T from other disorders (differential diagnosis) is ultimately made on the basis of laboratory tests. The most consistent laboratory marker of A-T is an elevated level of serum alpha-fetoprotein (a protein that stimulates the production of antibodies) after the age of two years. Prenatal diagnosis is possible through the measurement of alpha-fetoprotein levels in amniotic fluid and the documentation of increased spontaneous chromosomal breakage of amniotic cell DNA. Diagnostic support may also be offered by a finding of low serum IgA, IgG and/or IgE. However, these immune system findings vary from patient to patient and are not abnormal in all individuals.

The presence of spontaneous chromosome breaks and rearrangements in lymphocytes in vitro (test tube) and in cultured skin fibroblasts (cells from which connective tissue is made) is also an important laboratory marker of A T. And finally, reduced survival of lymphocyte (cells present in the blood and lymphatic tissues) and fibroblast cultures, after exposure to ionizing radiation, will confirm a diagnosis of A-T, although this technique is performed in specialized laboratories and is not routinely available to physicians.

When the mutated A-T gene (ATM) has been identified by researchers, it is possible to confirm a diagnosis by screening the patient's DNA for mutations. However, in most cases the large size of the ATM gene and the large number of possible mutations in patients with A-T seriously limit the usefulness of mutation analysis as a diagnostic tool or method of carrier identification.

Treatment team

The child's primary care physician will likely be the first person to begin evaluating the child for the presence of ataxia-telangiectasia. Other consulting physicians may include a neurologist (to help manage the neurologic complications), a pulmonologist and/or infectious disease specialist (to help manage the lung infections), and a hematologist/oncologist (to help manage lymphoma or leukemia). Physical therapists, occupational therapists, and speech and language therapists should also be consulted.

Treatment

There is no specific treatment for A-T because gene therapy is not yet an available option. Also, the disease is usually not diagnosed until the individual has developed health problems. Treatment is therefore focused on the observed conditions, especially if neoplasms are present. However, radiation therapy must be minimized to avoid inducing further chromosomal damage and tumor growth.

Supportive therapy is available to reduce the symptoms of drooling, twitching, and ataxia, but individual responses to specific medications vary. The use of sunscreens to retard skin changes due to premature aging can be helpful. In addition, early use of pulmonary physiotherapy, physical therapy, and speech therapy is also important to minimize muscle contractures (shortening or tightening of muscles).

Although its use has not been formally tested, some researchers recommend the use of antioxidants (such as vitamin E) in patients with A-T. Antioxidants help to reduce oxidative damage to cells.

Prognosis

A-T is an incurable disease. Most children with A-T depend on wheelchairs by the age of ten because of a lack of muscle control. Children with A-T usually die from respiratory failure or cancer by their teens or early 20s. Although it is extremely rare, some patients with A-T may live into their 40s.

Resources

BOOKS

Vogelstein, Bert, and Kenneth E. Kinzler. The Genetic Basis of Human Cancer. New York: McGraw-Hill, 1998.

PERIODICALS

Brownlee, Shanna. "Guilty Gene." U.S. News and World Report. (July 3, 1995): 16.

Kum Kum, Khanna. "Cancer Risk and the ATM Gene."

Journal of the American Cancer Institute 92, no. 6 (May 17, 2000): 795–802.

Stankovic, Tatjana, and Peter Weber, et al. "Inactivation of Ataxia Tlangiectasia Mutated Gene in B-cell Chronic Lymphocytic Leukaemia." Lancet 353 (January 2, 1999): 26–29.

Wang, Jean. "New Link in a Web of Human Genes." Nature 405, no. 6785 (May 25, 2000): 404–405.

ORGANIZATIONS

A-T Children's Project. 668 South Military Trail, Deerfield Beach, FL 33442. (800) 5-HELP-A-T. http://www.atcp.org.

A-T Medical Research Foundation. 5241 Round Meadow Rd., Hidden Hills, CA 91302. http://pathnet.medsch.ucla.edu/people/faculty/gatti/gatsign.htm.

National Ataxia Foundation. 2600 Fernbrook Lane, Suite 119, Minneapolis, MN 55447. (763) 553-0020. Fax: (763) 553-0167. naf@ataxia.org. http://www.ataxia.org.

National Organization to Treat A-T. 4316 Ramsey Ave., Austin, TX 78756-3207. (877) TREAT-AT. http://www.treat-at.org.


Genevieve T. Slomski, PhD


Rosalyn Carson-Dewitt, MD


 
Medical Dictionary: ataxia telangiectasia

n.

A disease characterized by progressive ataxia due to disease in the cerebellum, oculocutaneous telangiectases, proneness to pulmonary infections, and immunodeficiency.

 
Wikipedia: ataxia telangiectasia


Ataxia telangiectasia
Classification & external resources
ICD-10 G11.3
ICD-9 334.8
OMIM 208900
DiseasesDB 1025
eMedicine derm/691  oph/319
MeSH D001260

Ataxia-telangiectasia (AT) (Boder-Sedgwick syndrome[1] 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).

Symptoms and prognosis

Telangiectasias are small, red 'spider' veins. These typically appear on the surface of the ears and cheeks or in the corners of the eyes in patients with AT. The 'ataxia' part of the name refers to the difficulty patients with AT have walking. At an early age, the child's walking becomes wobbly; at teens, handicapped-bound; and at the early 20s, the condition becomes fatal.

In some cases the victim gets enlarged bowels, and they don't feel like eating. AT is characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, progressive cerebellar dysfunction, and recurrent sinopulmonary infections secondary to progressive immunological and neurological dysfunction.[2] AT patients are significantly predisposed to cancer, particularly lymphomas and leukemia. Other manifestations of the disease include sensitivity to ionizing radiation,[3] premature aging, and hypogonadism.[citation needed] AT has been a major interest of scientists since the 1960's because it may yield an insight into numerous other major health problems, such as cancer, neurological disease, immunodeficiency, and aging (Lederman, 2000).

Cause

The responsible gene in AT, ataxia-telangiectasia mutated (ATM), was discovered in 1995 by Savitsky et al.,[4] a team led by Yosef Shiloh of Tel Aviv University in Israel. Researchers linked the hyper-sensitivity of AT patients to ionizing radiation (IR) and predisposition to cancer, to "chromosomal instability, abnormalities in genetic recombination, and defective signaling to programmed cell death and several cell cycle checkpoints activated by DNA damage".[5] Earlier observations predicted that the gene altered in AT played a role in DNA damage recognition. These predictions were confirmed when a single gene on chromosome 11 (11q 22-23) was discovered.[4][6] Since its discovery, the protein product of the ATM gene has been shown to be a part of eukaryotic cell cycle control, DNA repair, and DNA recombination (Lavin, 2004). Specifically, the AT gene serves as a tumor suppressor gene by contributing to a network of genes that link double stranded breaks in DNA to cell cycle arrest and apoptosis (programmed cell death). Patients with ATM have a defective AT gene, which leaves them susceptible to contracting cancer. For example, female ATM patients have a two-fold higher chance of ever having breast cancer, which often occur before the age of 50. ATM patients must try avoiding x-rays at all costs since the radiation induces double-stranded breaks.

Definition/Criteria

AT is characterised by:

  • Early-onset progressive cerebellar ataxia
  • Oculo-cutaneous telangiectasia (dilated blood vessels in the eyes and skin)
  • Immunodeficiency mostly thorough lowering of IgA, IgG and IgE levels.
  • Chromosomal instability
  • Hyper sensitivity to ionising radiation
  • Increased incidence of malignancies primarily lymphoid.
  • Raised alpha-fetoprotein levels.

Classification

So far there appear to be three forms of AT:

  1. Pure AT where patients present with all/most of the diagnostic symptoms.
  2. Attenuated AT where sufferers do not possess all of the diagnostic symptoms.
  3. Carrier AT where individuals with a single ATM mutation show an increased risk of cancer (known since the 1970’s).

These are sometimes classified into ‘types’ from I to IV.

  • Type I is the classic syndrome with all manifestations.
  • Type II lacks some of the typical findings but shows radiosensitivity.
  • Type III has the classic clinical findings but is not radiosensitive.
  • Type IV shows only some clinical features and is not radiosensitive.

Differential Diagnosis

Ataxia telangiectasia like disorder (ATLD) is an extremely rare condition which could be considered as a differential diagnosis to A-T. ATLD patients are very similar to A_T patients in showing a progressive cerebellar ataxia, hypersensitivity to ionising radiation and genomic instability. However, ATLD can be distinguished from A-T by the absence of telangiectasias, normal immunoglobulin levels, a later onset of the condition and a slower progression of the disease. It is not known whether ATLD individuals are also predisposed to tumours. The gene mutated in ATLD is hMre11 and is located on chromosome 11q21.

Nijmegen breakage syndrome (NBS), also known as ataxia telangiectasia variant 1, is a very rare syndrome which could be considered as a differential diagnosis to AT. People with Nijmegen breakage syndrome show the same immunodeficiency, radiosensitivity and risk of cancer as AT but do not have any ataxia or oculo-cutaneous telangiectasia. Nijmegen breakage syndrome sufferers also show microcephaly. The gene associated with Nijmegen syndrome (Nbs1) is known to be located on 8q21.

Interestingly, the proteins expressed by the hMre11 and Nbs1 genes exist in the cell as a complex, along with a third protein expressed by the hRad50 gene. This complex, known as the MRN complex, plays an important role in DNA damage repair and signalling and is required to recruit ATM to the sites of DNA double strand breaks. Mre11 and Nbs1 are also targets for phosphorylation by the ATM kinase. Thus, the similarity of the three diseases can be explained in part by the fact that the protein products of the three genes mutated in these disorders interact in common pathways in the cell.

In the early ataxic stages children may be diagnosed with cerebral palsy.

Other differential diagnoses are:

Clinical Description

The outlook for AT sufferers is not good, mainly due to the compromised immune system which results in recurrent respiratory infections. Neurological features are progressive as is deterioration and aging of the skin and hair with ataxia usually seen in the first year of life. Sufferers are usually wheelchair bound by the age of 10 or 11. Telangiectasias are not seen in the early stages of the disease and begin to appear after a few years i.e. between 3-6 years of age, in the corners of the eyes, ears and cheeks. Individuals are also at a 10% risk of developing cancer, usually lymphomas and often breast cancer. However due to sufferers hyper-sensitivity to ionising radiation, radiotherapy and chemotherapy must be used with extreme caution. Oculo-cutaneous telangiectasia is often not obvious in the early stages of the disease. Other features of the disease may include mild diabetes mellitus, premature graying of the hair, difficulty swallowing, and delayed physical and sexual development. People with the disease usually have normal intelligence. Mental retardation is uncommon in people with A-T.[7]

Management

Treatment is symptomatic and supportive. Physical and occupational therapy may help maintain flexibility. Speech therapy may also be needed. Gamma-globulin injections may be given to help supplement a weakened immune system. High-dose vitamin regimens may also be used. Antibiotics are used to treat infections. Some physicians recommend low doses of chemotherapy to reduce the risk of cancer but this is controversial. It is also recommended that heterozygote family members are regularly monitored for cancers. Recently desferrioxamine was shown to increase the stability of AT cells and may prove to be an effective treatment for the disorder.

Diagnostic Methods

Diagnosis is usually achieved by examination and identification of both ataxia and oculo-cutaneous telangiectasia. This is then followed by laboratory tests for low levels of IgA, IgG2, IgG4, and IgE. Sufferers may also have a low lymphocyte count and other immunological abnormalities. This can then be followed by cytogenetic and molecular testing to confirm the diagnosis. MRI and CT scans may show signs of cerebellar atrophy.

Etiology

AT is an autosomal recessive disorder caused by mutations in the ATM gene located on chromosome 11q22-23. [8] It was characterised in June of 1995 and is made up of 66 exons spread across 150kb of genomic DNA. It encodes a 13kb mature transcript with an open reading frame of 9168 nucleotides. The ATM protein is about 370kDa and is ubiquitously expressed and is localised to the cell nucleus. The ATM protein is a large serine-threonine kinase thought to play a role in regulating cell cycle checkpoints, repair of double stranded DNA and meiosis (similar to the BRCA genes). ATM is also known to play a role in regulating p53, BRCA1 and CHEK2. Part of ATM’s role in DNA repair is known to be that of telomere repair as telomeres degrade more rapidly in people affected with AT.

Mutations in the ATM gene are thought to come in two types:

  • Null mutations are those which cause complete loss of function of the protein and are therefore inherited in a recessive manner and cause AT.
  • ‘Missense’ mutations which produce stable, full sized protein with reduced function e.g. substitutions, short in-frame insertions and deletions etc. These mutations act by dominantly interfering with the normal copy of the protein.

The majority of AT sufferers, 65-70%, have truncating mutations, with exon skipping mutations being particularly common. This results in very low or undetectable levels of ATM protein. Missense mutations are the most common type of mutation found in carriers with breast cancer. Individuals with two missense mutations are believed to have a milder form of AT, which may account for cases of attenuated AT. Therefore it is thought that ‘subtle constitutional alterations of ATM may impart an increased risk of developing breast cancer and therefore act as a low penetrance, high prevalence gene in the general population’ (Maillet et al 2002).

Clinical aspects

Oculo-cutaneous telangiectasia combined with ataxia are the defining features of the condition. However, some patients with AT, even those with two null mutations who produce no ATM protein at all, may never present with oculo-cutaneous telangiectasia.

Prognosis

The prognosis for AT sufferers is not good. Those with the disease usually die in their teens or early 20s although some individuals have been know to live to over 40. Carriers of ATM missense mutations are believed to have a 60% penetrance by age 70 and a risk of breast cancer 16x that of the normal population. Some papers state a lifetime risk for people with both null and missense mutations of 10-38%, which is still a hundred fold increase from population risk.

Carriers of any type of ATM mutation have a 5-8 fold increased risk of cancer and on average die 7-8 years earlier than the normal population, often from heart disease.

Individuals with a single ATM mutation are also at a higher risk from lung, gastric and lymphoid tumours, as well as breast cancer. S707P is known to be particularly common in breast cancer patients and F1463S is known to be associated with Hodgkin’s lymphoma. A recent study suggests that the majority of AT sufferers die from pulmonary infections (46%), with 21% dying from malignancies and 28% from malignancies and pulmonary infection. If pulmonary infections could be completely eradicated AT is consistent with survival into the 5th or 6th decade.

Epidemiology/ Prevalence

AT has an incidence of between 1 in 40,000 and 1 in 100,000. Carrier frequency is thought to be 1:100-200. Some mutations are more common than others is certain geographical regions for example, the 7636del9 mutation is a common mutation in European populations which has been shown to increase the risk of breast cancer in carriers.

Molecular Diagnosis

Molecular diagnosis of AT can be carried out by sequencing all 66 exon of the gene or by linkage if there is a significant family history. Protein functionality testing is also available. However AT testing is usually carried out cytogenetically as specific breakpoints and cytogenetic instability are major characteristic features of the disorder. This must be carried out on lymphocytes. 10% of patients with AT show balanced translocations, 2/3rds of which involve the immunoglobulin genes on chromosomes 7 and 14. Some patients show expansions in their immunoglobulin genes which can expand during mitosis resulting in prolymphocyte leukaemia.

Genetic counseling

All individuals with AT should undergo genetic counselling along with their families. This is especially important due to the increased risk of cancers that heterozygotes have. There is also an associated risk to any other children born to the parents of the affected child.

Antenatal Diagnosis

Antenatal diagnosis can be carried out using linkage and microsatellite markers. However, direct gene analysis is more common.


References

  1. ^ synd/3567 at Who Named It
  2. ^ Boder E, Sedgwick RP (1958). "Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection". Pediatrics 21 (4): 526-54. PMID 13542097. 
  3. ^ Taylor AM, Harnden DG, Arlett CF, et al (1975). "Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity". Nature 258 (5534): 427-9. PMID 1196376. 
  4. ^ a b Savitsky K, Bar-Shira A, Gilad S, et al (1995). "A single ataxia telangiectasia gene with a product similar to PI-3 kinase". Science 268 (5218): 1749-53. PMID 7792600. 
  5. ^ Canman CE, Lim DS (1998). "The role of ATM in DNA damage responses and cancer". Oncogene 17 (25): 3301-8. DOI:10.1038/sj.onc.1202577. PMID 9916992. 
  6. ^ Gatti RA, Bick M, Tam CF, et al (1982). "Ataxia-Telangiectasia: a multiparameter analysis of eight families". Clin. Immunol. Immunopathol. 23 (2): 501-16. PMID 6213343. 
  7. ^ ped/2862 at eMedicine
  8. ^ Mendelian Inheritance in Man (OMIM) 209800

External links

Phakomatoses and other congenital malformations not elsewhere classified (Q85-Q89, 759)
Phakomatoses Neurofibromatosis (type I, type II) - Tuberous sclerosis - Sturge-Weber syndrome - Von Hippel-Lindau disease - Incontinentia pigmenti - Ataxia telangiectasia
Due to known exogenous causes Fetal alcohol syndrome - Phocomelia (via Thalidomide)
Affecting multiple systems facial (Mobius syndrome, Goldenhar syndrome, Cyclopia, Apert syndrome)

short stature (Aarskog-Scott syndrome, Cockayne syndrome, Cornelia de Lange Syndrome, Dubowitz syndrome - Noonan syndrome, Robinow syndrome, Silver-Russell dwarfism, Seckel syndrome, Smith-Lemli-Opitz syndrome)

limbs (Holt-Oram syndrome, Klippel-Trenaunay-Weber syndrome, Nail-patella syndrome, Rubinstein-Taybi syndrome, Sirenomelia, VACTERL association)

overgrowth (Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome)

Marfan syndrome - Alport syndrome - Bardet-Biedl syndrome - Zellweger syndrome
Other Asplenia - Splenomegaly - Persistent thyroglossal duct - Thyroglossal cyst - Situs inversus - Conjoined twins - Cowden syndrome - Hamartoma - Peutz-Jeghers syndrome
Nervous system pathology, primarily CNS (G00-G47, 320-349)
Inflammatory diseases
of the CNS		 Meningitis (Arachnoiditis) - Encephalitis - Myelitis - Encephalomyelitis (Acute disseminated) - Tropical spastic paraparesis
Systemic atrophies
primarily affecting the CNS		 Huntington's disease - Spinocerebellar ataxia (Friedreich's ataxia, Ataxia telangiectasia, Hereditary spastic paraplegia)
Spinal muscular atrophy: Werdnig-Hoffman disease - Kugelberg-Welander disease - Fazio Londe syndrome -
MND (Amyotrophic lateral sclerosis (ALS), Progressive muscular atrophy (PMA), Progressive bulbar, Pseudobulbar, PLS)
Extrapyramidal and
movement disorders		 Parkinson's disease - Neuroleptic malignant syndrome - Postencephalitic parkinsonism - Pantothenate kinase-associated neurodegeneration - Progressive supranuclear palsy - Striatonigral degeneration - Dystonia (Spasmodic torticollis, Meige's syndrome, Blepharospasm) - Essential tremor - Myoclonus - Chorea - Restless legs syndrome - Stiff person syndrome
Other degenerative /
demyelinating diseases		 Alzheimer's disease - Pick's disease - Alpers' disease - Dementia with Lewy bodies - Leigh's disease - Multiple sclerosis - Devic's disease - Central pontine myelinolysis - Transverse myelitis
Seizure/epilepsy Focal (Simple partial, Complex partial) - Generalised (Tonic-clonic, Absence, Atonic, Benign familial neonatal) - Lennox-Gastaut - West - Epilepsia partialis continua - Status epilepticus (Complex partial status epilepticus)
Headache Migraine (Familial hemiplegic) - Cluster - Vascular - Tension
Vascular Transient ischemic attack (Amaurosis fugax, Transient global amnesia) - Cerebrovascular disease (MCA, ACA, PCA, Foville's syndrome, Millard-Gubler syndrome, Lateral medullary syndrome, Weber's syndrome, Lacunar stroke)
Sleep disorders Insomnia - Hypersomnia - Sleep apnea (Ondine's curse) - Narcolepsy - Cataplexy - Kleine-Levin syndrome
Other Hydrocephalus (Normal pressure) - Idiopathic intracranial hypertension - Encephalopathy - Brain herniation - Cerebral edema - Reye's syndrome - Syringomyelia - Syringobulbia - Spinal cord compression

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