Ataxia Spinocerebellar: Symptoms, Causes, Treatment
Spinocerebellar ataxia (SCA) is a genetically inherited disorder characterized by abnormalities in brain functioning.
Publish Date: 2010-04-13 - Updated: 2023-01-28
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.
Publish Date: 2010-04-10 - Updated: 2023-01-30
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.
Publish Date: 2010-04-09 - Updated: 2023-01-28
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.
Publish Date: 2010-04-03 - Updated: 2023-02-01
Fibrodysplasia Ossificans Progressiva (FOP) Information
Fibrodysplasia ossificans progressiva (FOP) is where muscle and connective tissues are slowly replaced by bone referred to as ossification.
Publish Date: 2010-03-30 - Updated: 2023-01-28
Adrenoleukodystrophy: Causes, Symptoms, Treatment
Adrenoleukodystrophy (ALD) or Schilder-Addison Disease involves closely related inherited disorders that disrupt the breakdown of fats in the body.
Publish Date: 2010-03-28 - Updated: 2023-01-31
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).
Publish Date: 2010-03-13 - Updated: 2023-02-01
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.
Publish Date: 2010-03-11 - Updated: 2023-02-01
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.
Publish Date: 2010-03-10 - Updated: 2023-01-31
Hirayama's Disease: Symptoms, Facts and Information
Hirayama's disease, also referred to as Monomelic amyotrophy, MMS, Sobue disease or Juvenile non-progressive amyotrophy.
Publish Date: 2010-03-08 - Updated: 2017-03-06
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.
Publish Date: 2010-03-04 - Updated: 2023-01-28
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 .
Publish Date: 2010-02-24 - Updated: 2023-02-01
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.
Publish Date: 2010-02-22 - Updated: 2023-02-01
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.
Publish Date: 2010-02-21 - Updated: 2023-01-28
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.
Publish Date: 2010-02-18 - Updated: 2023-02-01
Leigh's Disease: Symptoms, Causes, Treatment
Leighs disease is a form of rare inherited neuro-metabolic disorder that affects a persons central nervous system.
Publish Date: 2010-02-16 - Updated: 2023-01-29
Patau Syndrome: Symptoms, Causes, Treatment
Patau syndrome is a genetic disorder in which a person's chromosome thirteen appears three times instead of twice.
Publish Date: 2010-02-16 - Updated: 2023-01-31
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.
Publish Date: 2010-02-14 - Updated: 2023-01-28
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.
Publish Date: 2010-02-13 - Updated: 2023-01-28
Batten Disease: Symptoms, Causes, Treatments
Batten disease is a form of fatal inherited disorder that affects a persons nervous system.
Publish Date: 2010-02-12 - Updated: 2023-01-28
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.
Publish Date: 2010-02-11 - Updated: 2023-01-28
Prader-Willi Syndrome: Facts, Information, Research
Prader-Willi Syndrome (PWS) involves a disorder of chromosome 15, the disorder affects approximately one out of every twelve to fifteen thousand people from both sexes and all races.
Publish Date: 2010-02-07 - Updated: 2021-02-23
Congenital Adrenal Hyperplasia - Facts and Information
Treatment of congenital adrenal hyperplasia includes monitored hormone replacement therapy and a lifetime of daily medication.
Publish Date: 2010-01-02 - Updated: 2011-10-24
Marfan Syndrome - Facts and Information
Marfan syndrome is an inherited condition which affects a person's connective tissues.
Publish Date: 2009-12-16
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.
Publish Date: 2009-12-13 - Updated: 2022-05-19
Whipple's Disease - Facts and Information
Whipples disease involves a rare form of bacterial infection that primarily affects a persons small intestine.
Publish Date: 2009-12-13
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.
Publish Date: 2009-11-28 - Updated: 2009-11-30
Aortic Stenosis - Facts and Information
Information on aortic stenosis a disease a person may experience from birth or later on in life.
Publish Date: 2009-11-26
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.
Publish Date: 2009-11-24 - Updated: 2022-04-28
Alport Syndrome: Facts and Information
Alport syndrome is a form of genetic disease involving a mutation that affects a persons ears eyes and kidneys.
Publish Date: 2009-11-21 - Updated: 2020-12-02
Diphtheria: Types, Symptoms, Treatment
Diphtheria is a bacterial infection that happens quickly and spreads easily affecting a persons throat and nose.
Publish Date: 2009-11-13 - Updated: 2022-08-02
Bell's Palsy - Facts and Information
Bells palsy is a type of facial paralysis the result of either trauma or damage to one or two of a persons facial nerves.
Publish Date: 2009-11-12
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.
Publish Date: 2009-04-05 - Updated: 2023-02-01