Disability Types: Definitions and Theoretical Frameworks: Publications and Documents
Summary
This page serves as a searchable database of articles covering a wide range of rare and lesser-known medical conditions, genetic disorders, and disability types. It spans topics such as Ataxia, Tay-Sachs Disease, Marfan Syndrome, Prader-Willi Syndrome, Turner Syndrome, Bell's Palsy, and many others, with each entry showing its original publication date and most recent revision date. The table can be sorted and searched by column (requires JavaScript), and the content is also available via an RSS feed. The page also links to related condition databases covering cognitive, hearing, vision, mobility, psychological, and spinal cord injury.Searching the Database
The data table below lists items that may have been updated or revised, but the table defaults to sorting by descending publication date; you can search and sort by clicking column headers (JavaScript required). Items in this category are also distributed via our Disability Types: Definitions and Theoretical Frameworks RSS feed.
| Title and Description | Ed | Publish Revised |
|---|---|---|
| Ataxia Spinocerebellar: Symptoms, Causes, Treatment Spinocerebellar ataxia (SCA) is a genetically inherited disorder characterized by abnormalities in brain functioning. | ✓ | |
| Maple Syrup Urine Disease (MSUD): Symptoms and Treatment Maple syrup urine disease (MSUD) is a form of metabolic disorder that is passed down through families. | ||
| Glutaric Acidemia Type II (GA2) Information Glutaric Acidemia (GA2) is a form of autosomal recessive disorder. Both of the affected person's parents must be carriers of the disorder. | ||
| Thanatophoric Dysplasia: Causes, Symptoms, Treatment Thanatophoric Dysplasia is a form of severe skeletal disorder characterized by very notably short limbs and redundant skin on the person's arms and legs. | ||
| Fibrodysplasia Ossificans Progressiva (FOP): When Muscle Becomes Bone Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder causing progressive bone formation in muscles and connective tissues. | ✓ ✓ | |
| Adrenoleukodystrophy: Causes, Symptoms, Treatment Adrenoleukodystrophy (ALD) or Schilder-Addison Disease involves closely related inherited disorders that disrupt the breakdown of fats in the body. | ||
| Zellweger Syndrome: Causes, Symptoms, Treatment Zellweger syndrome is one of a group of four diseases that are related and are referred to as peroxisome biogenesis disorders (PBD). | ||
| Subacute Sclerosing Panencephalitis (SSPE): Symptoms, Causes, Treatment Subacute Sclerosing Panencephalitis (SSPE) is a form of a progressive neurological disorder that affects the central nervous system of children and young adults. | ||
| Niemann-Pick Disease: Symptoms and General Information Niemann-Pick Disease is one of a group of lysosome storage diseases that affect the metabolism caused by mutations in the genes. | ||
| Hirayama's Disease: Symptoms, Facts and Information Hirayama's disease, also referred to as Monomelic amyotrophy, MMS, Sobue disease or Juvenile non-progressive amyotrophy. | ||
| Retinoblastoma: Symptoms, Causes, Testing, Treatment A retinoblastoma is a form of childhood cancer that starts from immature retinal cells in one or both of the person's eyes. | ||
| Sanfilippo Syndrome: Causes, Symptoms, Treatment Sanfilippo syndrome is a form of inherited disease involving metabolism. The condition makes the body unable to break down long chains of sugar molecules appropriately . | ||
| Wolman Disease: Causes, Symptoms, Treatments Wolman disease is a form of a rare and inherited condition that involves the breakdown and use of cholesterol and fats in the body. | ||
| Cri Du Chat Syndrome: Causes, Symptoms, Treatment Cri du chat is one of the most common syndromes caused by chromosomal deletion affecting between one in twenty-thousand and one in fifty-thousand children. | ||
| Tay-Sachs Disease: Symptoms, Causes, Treatment Tay-Sachs disease is a form of fatal genetic lipid storage disorder where harmful amounts of ganglioside GM2 build up in the nerve cells and tissues of the brain. | ||
| Leigh's Disease: Symptoms, Causes, Treatment Leighs disease is a form of rare inherited neuro-metabolic disorder that affects a persons central nervous system. | ||
| Patau Syndrome: Symptoms, Causes, Treatment Patau syndrome (Trisomy 13) causes severe birth defects when chromosome 13 appears three times. Learn symptoms, diagnosis, and treatment options.. | ✓ ✓ | |
| Edward's Syndrome: Causes, Symptoms, Treatment Edwards Syndrome, also known as Trisomy 18 (T18), or Trisomy E, is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. | ||
| Degos Disease: Facts, Causes, Symptoms, Treatment Degos disease is a very rare form of illness that was first described by Kohlmeier in the year 1941 and documented as a distinct form of illness. | ||
| Batten Disease: Symptoms, Causes, Treatments Batten disease is a form of fatal inherited disorder that affects a persons nervous system. | ||
| Alstrom Syndrome: Symptoms, Causes, Information Alstrom syndrome is characterized by a progressive loss of both hearing and vision, as well as a form of heart disease which weakens and enlarges a person's heart. | ||
| Prader-Willi Syndrome: Facts, Information, Research The major characteristics of Prader-Willi Syndrome (PWS) includes hypotonia, hypogonadism, hyperphagia, cognitive impairment, and difficult behaviors. | ||
| Congenital Adrenal Hyperplasia: Facts and Information Information regarding congenital adrenal hyperplasia (CAH) including monitored hormone replacement therapy and daily medication. | ||
| Marfan Syndrome - Facts and Information Marfan syndrome is an inherited condition which affects a person's connective tissues. | ||
| Fanconi Anemia: Symptoms, Causes, Treatment Fanconi's Anemia (FA) is a rare form of recessive, inherited blood disorder that leads to bone marrow failure. Fanconi's prevents a person's bone marrow from producing enough blood cells for their body to function as it should. | ||
| Whipple's Disease - Facts and Information Whipples disease involves a rare form of bacterial infection that primarily affects a persons small intestine. | ||
| Otitis Media - Facts and Information Otitis media is inflammation or infection of the middle ear that often starts after a cold,sore throat or other form of breathing or respiratory problem spreads to the middle ear. | ||
| Aortic Stenosis - Facts and Information Information on aortic stenosis a disease a person may experience from birth or later on in life. | ||
| Turner Syndrome: Diagnosing, Risk, Treatment Turner syndrome chromosomal condition describes women and girls with features caused by a partial or complete absence of second sex chromosome. | ||
| Alport Syndrome: Facts and Information Alport syndrome is a form of genetic disease involving a mutation that affects a persons ears eyes and kidneys. | ||
| Diphtheria: Types, Symptoms, Treatment Diphtheria is a bacterial infection that happens quickly and spreads easily affecting a persons throat and nose. | ||
| Bell’s Palsy: Causes, Symptoms, Diagnosis, and Treatment Facts Bell's palsy is a temporary facial paralysis from facial nerve damage, causing drooping, weakness, and altered taste, often triggered by viral infection. | ✓ ✓ | |
| Spinal Muscular Atrophy Types 0 and 1 Spinal muscular atrophy types belong to hereditary diseases that cause weakness and wasting of voluntary muscles in the arms and legs of children. |
Key: the first check mark indicates the publication carries an editor's note; the second indicates a footnote.
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