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A list of the diseases that aren't particularly well-known, or well funded (hence why cancer, though a very nasty disease, is not here).

This will, eventually, be split into several threads and probably alphabetised. But in the mean time this is the best place to keep everything.

*If you spot anything in here that you know is wrong then please let myself or Lou know so we can edit accordingly, most of this is from Wikipedia and some times it is not the most reliable of sources*

Currently listed:

Page 1

Motor Neurone Disease (including ALS/Lou Gehrig's disease) > Post 2.
Multiple Sclerosis > Post 3.
Osteopetrosis > Post 4.
Anencephaly > Post 5.
Huntingtons Disease > Post 6.
Alzheimers > Post 7.
Neurofibromatosis Type 2> Post 8.
Muscular Dystrophy> Post 9.
Parkinsons Disease> Post 10.
Spina Bifida> Post 11.
Fibromyalgia> Post 12.
CFS (chronic fatigue syndrome)> Post 13.
Osteoporosis> Post 14.

Page 2

Osteochondroma> Post 1.
Scoliosis> Post 2.
Ataxia> Post 3.
Dyspraxia> Post 4.
Lupus> Post 5.
Tuberous Sclerosis> Post 6.
Encephalitis> Post 7.
Cystic Fibrosis> Post 8.


Still to add:
Reflex Sympathetic Dystrophy
Scleroderma
Creutzfeldt-Jakob Disease
Niemann-Pick
Cerebral Palsy
Pompe's Disease


Also anything from here:
http://en.wikipedia.org/wiki/Category:Neurological_disorders

Any others?

Multiple Sclerosis

Multiple sclerosis (MS) is an autoimmune condition in which the immune system attacks the central nervous system, causing impairment in sensation, movement, cognition, or other functions depending on which nerves are involved.

MS presents with a variety of symptoms, including changes in sensation, muscle weakness, abnormal muscle spasms, or difficulty in moving; difficulties with coordination and balance; problems in speech or swallowing, visual problems, fatigue and acute or chronic pain syndromes, and bladder and bowel difficulties.

The symptoms can come and go, someone may find their symptoms alleviate, but then relapse weeks or even months later. Multiple sclerosis relapses are often unpredictable and can occur without warning with no obvious inciting factors. Some attacks, however, are preceded by common triggers. Infections, such as the common cold, influenza, and gastroenteritis, increase the risk for a relapse. Emotional and physical stress may also trigger an attack, as can severe illness of any kind.

Multiple sclerosis is difficult to diagnose in its early stages. In fact, a definite diagnosis cannot be made until other disease processes (differential diagnoses) have been ruled out. Tests to find a diagnosis many include an MRI scan, and testing spinal fluid, along with eye and sensory tests, deterioration in either of these can be an indication that someone has MS.

The causes of MS are not known, it is not considered to be a genetic disease so may be environmental. For some reason the body's immune system turns on one's body and begins attacking the nervous system, this may be due to an undetected infection, or an odd allergic reaction.

Although there is no known cure for multiple sclerosis, several therapies have proven helpful. The primary aims of therapy are returning function after an attack, preventing new attacks, and preventing disability. As with any medical treatment, medications used in the management of MS have several adverse effects, and many possible therapies are still under investigation. The medications available have a long list of bad side-effects, fever, aching muscles, fatigue, liver damage, breathlessness and palpitations.

Anencephaly

Anencephaly is a disorder that results from a neural tube defect (the neural tube is what comes before the central nervous system in an embryo) that occurs when the cephalic (head) end of the neural tube fails to close, usually between the 23rd and 26th day of pregnancy, resulting in the absence of a major portion of the brain, skull, and scalp. Children with this disorder are born without a forebrain, the largest part of the brain consisting mainly of the parts of the brain that deal with thinking, language and movement commands. The remaining brain tissue is often exposed - not covered by bone or skin.

Infants born with anencephaly are usually blind, deaf, unconscious, and unable to feel pain. Reflex actions such as breathing and responses to sound or touch may occur. Some babies with a more developed brain stem may gain consciousness, but this is a heavily debated subject by doctors.

There is no cure or standard treatment for anencephaly and the prognosis for affected individuals is poor. Most anencephalic babies do not survive birth, accounting for 55% of non-aborted cases. If the infant is not stillborn, then he or she will usually die within a few hours or days after birth from cardiorespiratory arrest.

The cause of anencephaly is unknown. It may be hereditary in certain cases, but there is currently no fully established pattern. It is known that women taking certain medication for epilepsy and women with insulin dependent diabetes have a higher chance of having a child with a neural tube defect. Recent studies have shown that the addition of folic acid to the diet of women of child-bearing age may significantly reduce, although not eliminate, the incidence of neural tube defects.

Alzheimer’s

Alzheimer's disease (AD), also called Alzheimer disease or simply Alzheimer's, is the most common cause of dementia, afflicting 24 million people worldwide. Alzheimer's is a degenerative and terminal disease for which there is currently no known cure.

In its early stages, short-term memory loss is the most common symptom, often initially thought to be caused by aging or stress by the sufferer. Later symptoms include confusion, anger, mood swings, language breakdown, long-term memory loss, and the general withdrawal of the sufferer as his or her senses decline. Gradually the sufferer loses minor, and then major bodily functions, until death occurs.

Although the symptoms are common, each individual experiences the symptoms in unique ways. The duration of the disease is estimated as being between 5 and 20 years. The cause and progression of Alzheimer's disease is not well understood, but is associated with plaques and tangles in the brain.

Dementia is by definition a clinical condition but not an exact diagnosis. Alzheimer's disease is usually diagnosed clinically from the patient history, collateral history from relatives, and clinical observations, and like Motor Neurone Disease they simply eliminate possible other diseases one by one until Alzheimer’s is left.

There is no known cure for Alzheimer's disease. Available treatments are focused on simply relieving the symptoms. Current treatments can be divided into pharmaceutical, psychosocial and caregiving. There are also many potential treatments undergoing investigation, some of which are in clinical studies.

Muscular dystrophy is a group of genetic, hereditary diseases that lead to muscle weakness. They are characterized by progressive skeletal muscle weakness and the death of muscle cells and tissues. There are more than 100 diseases classified as muscular dystrophy.

The various conditions that are classed as muscular dystrophy as inherited, the best known type (Duchenne Muscular Dystrophy) is inherited from the x-chromosome. In males, who only have one x chromosome, only one dodgy gene is needed. Females on the other hand have two x chromosomes and need a dodgy gene on each chromosome (one from the mother and one from the father) in order to have this disease.

Symptoms of MD include steadily increasing muscle weakness, poor balance, walking difficulty, and respitory difficulty.

Muscular dystrophy is easier to diagnose than other diseases, using either a muscle biopsy or occasionally a DNA test. The type of MD is diagnosed with a physical exam and family history, specific groups of muscles are affected by certain types of MD.

The prognosis for people with muscular dystrophy varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with muscular dystrophy die in infancy while others live into adulthood with only moderate disability. The muscles affected vary, but can be around the pelvis, shoulder, face or elsewhere. Muscular dystrophy can affect adults, but the more severe forms tend to occur in early childhood.

There is no cure for any of the forms of MD. Inactivity, such as bed rest or sitting still for longs periods of time, can make the disease worse. Physical and speech therapies, along with aids such as wheelchairs, can help slow the progression of the symptoms. Occupational therapy can also assist the patient with activities for daily life, such as self-feeding.

Diseases that come under the MD umbrella include:

Becker's muscular dystrophy

Becker muscular dystrophy (BMD) is a less severe variant of Duchenne muscular dystrophy and is caused by the production of a truncated, but partially functional form of dystrophin.
Survival is usually into middle age.

Congenital muscular dystrophy

Age at onset: birth; symptoms include general muscle weakness and possible joint deformities; disease progresses slowly.

Congenital muscular dystrophy includes several disorders with a range of symptoms. Muscle degeneration may be mild or severe. Problems may be restricted to skeletal muscle, or muscle degeneration may be pair with effects on the brain and other organ systems. A number of the forms of the congenital muscular dystrophies are caused by defects in proteins that are thought to have some relationship to the dystrophin-glycoprotein complex and to the connections between muscle cells and their surrounding cellular structure. Some forms of congenital muscular dystrophy show severe brain malformations, such as lissencephaly and hydrocephalus.

Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy. DMD usually becomes clinically evident when a child begins walking. Patients typically require a wheelchair by age 10 to 12 and die in their late teens or early 20s. In the early 1990s, researchers identified the gene for the protein dystrophin which, when absent, causes DMD. The dystrophin gene is the largest known gene in humans. Since the gene is on the X-chromosome, this disorder affects primarily males.

Females who are carriers have milder symptoms. Sporadic mutations in this gene occur frequently, accounting for a third of cases. The remaining two-thirds of cases are inherited in a recessive pattern. age at onset: two to six years; symptoms include general muscle weakness and wasting; affects pelvis, upper arms, and upper legs; eventually involves all voluntary muscles; survival beyond 20 years is rare.


Distal muscular dystrophy

Distal muscular dystrophies' age at onset: 40 to 60 years; symptoms include weakness and wasting of muscles of the hands, forearms, and lower legs; progress is slow and not life-threatening.

Miyoshi myopathy, one of the distal muscular dystrophies, causes initial weakness in the calf muscles, and is caused by defects in the same gene responsible for one form of Limb Girdle Muscular Dystrophy.

Emery-Dreifuss muscular dystrophy

Age at onset, childhood to early teens. Symptoms include weakness and wasting of shoulder, upper arm, and shin muscles; joint deformities are common; progress is slow; sudden death may occur from cardiac problems.

Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) initially affects muscles of the face, shoulders, and upper arms with progressive weakness. Symptoms usually develop in the teenage years. Some affected individuals become severely disabled. The pattern of inheritance is autosomal dominant, but the underlying genetic defect is poorly understood. Most cases are associated with a deletion near the end of chromosome 4.

Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy's is also called LGMD. LGMD's all show a similar distribution of muscle weakness, affecting both upper arms and legs. Many forms of LGMD have been identified, showing different patterns of inheritance (autosomal recessive vs. autosomal dominant). In an autosomal recessive pattern of inheritance, an individual receives two copies of the defective gene, one from each parent. The recessive LGMDs are more frequent than the dominant forms, and usually have childhood or teenage onset. The dominant LGMDs usually show adult onset. Some of the recessive forms have been associated with defects in proteins that make up the dystrophin-glycoprotein complex.

Death from LGMD is usually due to heart complications.

Myotonic muscular dystrophy

Myotonic MD's age at onset: 20 to 40 years.
Myotonic muscular dystrophy is the most common adult form of muscular dystrophy. It is marked by myotonia as well as muscle wasting and weakness. Myotonic dystrophy varies in severity and manifestations and affects many body systems in addition to skeletal muscles, including the heart, endocrine organs, eyes, and gastrointestinal tract. Myotonic dystrophy follows an autosomal dominant pattern of inheritance. Myotonic dystrophy results from the expansion of a short repeat in the DNA sequence (CTG in one gene or CCTG in another gene). In other words, the gene defect is an abnormally long repetition of a three- or four-letter "word" in the genome. While the exact mechanism of action is not known, this molecular change may interfere with the production of important muscle proteins.

Oculopharyngeal muscular dystrophy

Oculopharyngeal MD's age at onset: 40 to 70 years; symptoms affect muscles of eyelids, face, and throat followed by pelvic and shoulder muscle weakness, has been attributed to a short repeat expansion in the genome which regulates the translation of some genes into functional proteins.

Spina Bifida

Spina bifida (Latin: "split spine") is a developmental birth defect involving the neural tube: incomplete closure of the embryonic neural tube results in an incompletely formed spinal cord. In addition, the vertebrae overlying the open portion of the spinal cord do not fully form and remain unfused and open. This allows the abnormal portion of the spinal cord to stick out through the opening in the bones. There may or may not be a fluid filled sac surrounding the open spinal cord.

Spina bifida malformations fall into three categories: spina bifida occulta, spina bifida cystica (myelomeningocele), and meningocele. The most common location of the malformations is the lumbar and sacral areas of the spinal cord. Myelomeningocele is the most significant form and it is this that leads to disability in most affected individuals. The terms spina bifida and myelomeningocele are usually used interchangeably.

Spina bifida can be surgically closed after birth, but this does not restore normal function to the affected part of the spinal cord and an individual with this condition will have dysfunction of the spinal cord and associated nerves from the point of the open defect and below. Intrauterine surgery for spina bifida has also been performed and the safety and efficacy of this procedure is currently being investigated. The incidence of spina bifida can be decreased up to 70 percent when daily folic acid supplements are taken prior to conception.

Spina bifida occulta

Occulta is Latin for "hidden." This is one of the mildest forms of spina bifida although the degree of disability can vary depending upon the location of the lesion.

In occulta there is no opening of the back, but the outer part of some of the vertebrae are not completely closed. The split in the vertebrae is so small that the spinal cord does not protrude. The skin at the site of the lesion may be normal, or it may have some hair growing from it; there may be a dimple in the skin, a lipoma, a dermal sinus or a birthmark.

Many people with the mildest form of this type of spina bifida do not even know they have it, or symptoms do not appear until later in life. More recent studies not included in the review support the negative findings.

However, other studies suggest spina bifida occulta is not always harmless. One study found that among patients with back pain, severity is worse if spina bifida occulta is present.

Meningocele

The least common form of spina bifida is a posterior meningocele (or meningeal cyst).

In a posterior meningocele, the outer faces of some vertebrae are open (unfused) and the meninges are damaged and pushed out through the opening, appearing as a sac or cyst which contains cerebrospinal fluid. The spinal cord and nerves are not involved and their function is normal.

In an anterior meningocele, the inner faces of vertebrae are affected and the cyst protrudes into the retroperitoneum or the presacral space.

Apart from spina bifida, causes of meningocele include teratoma and other tumors of the sacrococcyx and of the presacral space, and Currarino syndrome. Usually a meningocele has no negative long-term effects, although there are reports of tethered cord.

Spina bifida cystica (myelomeningocele)

In this, the most serious and common [8]form, the unfused portion of the spinal column allows the spinal cord to protrude through an opening in the overlying vertebrae. The meningeal membranes that cover the spinal cord may or may not form a sac enclosing the spinal elements. Superficially, the cyst may resemble an unrelated defect, sacrococcygeal teratoma. Spina bifida with myeloschisis is the most severe form of spina bifida cystica. In this defect, the neural folds fail to meet and fuse leaving the spinal cord open and the involved area represented by a flattened, plate-like mass of nervous tissue with no overlying skin or membrane. The unfused elements of the spinal cord can be surgically closed along with the overlying muscle and skin shortly after birth (see treatment section below).

The incompletely closed portion of the spinal cord and the nerves which originate at that level of the cord are damaged or not properly developed. As a result, there is usually some degree of paralysis and loss of sensation below the level of the spinal cord defect. Thus, the higher the level of the defect the more severe the associated nerve dysfunction and resultant paralysis. People may have ambulatory problems, loss of sensation, deformities of the hips, knees or feet and loss of muscle tone. Depending on the location of the lesion, intense pain may occur originating in the lower back, and continuing down the leg to the back of the knee.

Most children and adults with this condition experience problems with bowel and bladder control since the nerves which control these functions originate at the lowest part of the spinal cord. This may result in incontinence from neurogenic bladder.

Many individuals with spina bifida will have an associated abnormality of the cerebellum, called the Arnold Chiari II malformation. In affected individuals the back portion of the brain is displaced from the back of the skull down into the upper neck. In approximately 90 percent of the people with myelomeningocele, hydrocephalus will also occur because the displaced cerebellum interferes with the normal flow of cerebrospinal fluid.

The myelomeningocele (or perhaps the scarring due to surgery) tethers the spinal cord to the enveloping vertebra. In some individuals this causes significant traction on the spinal cord and can lead to a worsening of the paralysis, scoliosis, back pain, or worsening bowel and/or bladder function.

CFS (Chronic Fatigue Syndrome)

Chronic fatigue syndrome (CFS) is one of several names given to a poorly understood, variably debilitating disorder or disorders of uncertain causation. CFS is thought, based on a 1999 study, to affect approximately 4 per 1,000 adults in the United States. For unknown reasons, CFS occurs more often in women than men, and in people in their 40s and 50s. The illness is estimated to be less prevalent among children and adolescents, but studies are contradictory as to the degree.

CFS often manifests with widespread myalgia and arthralgia, cognitive difficulties, chronic mental and physical exhaustion, often severe, and other characteristic symptoms in a previously healthy and active person. Despite promising avenues of research, there remains no assay or pathological finding which is widely accepted to be diagnostic of CFS. It remains a diagnosis of exclusion based largely on patient history and symptomatic criteria, although a number of tests can aid diagnosis.[5] Whereas there is agreement on the genuine threat to health, happiness, and productivity posed by CFS, various physicians' groups, researchers, and patient activists champion very different nomenclature, diagnostic criteria, etiologic hypotheses, and treatments, resulting in controversy about nearly all aspects of the disorder. Even the term chronic fatigue syndrome is controversial because a large part of the patient community believes the name trivializes the illness.

Chronic fatigue syndrome is not the same as "chronic fatigue". Fatigue is a common symptom in many illnesses, but CFS is a multi-systemic disease and is relatively rare by comparison. Definitions (other than the 1991 UK Oxford criteria) require a number of features, the most common being severe mental and physical exhaustion which is "unrelieved by rest" (1994 Fukuda definition), and may be worsened by even trivial exertion (a mandatory diagnostic criterion according to some systems). Most diagnostic criteria require that symptoms must be present for at least six months, and all state the symptoms must not be caused by other medical conditions. CFS patients may report many symptoms which are not included in all diagnostic criteria, including muscle weakness, cognitive dysfunction, hypersensitivity, orthostatic intolerance, digestive disturbances, depression, poor immune response, and cardiac and respiratory problems. It is unclear if these symptoms represent co-morbid conditions or are produced by an underlying etiology of CFS. Some cases improve over time, and treatments (though none are universally accepted) bring a degree of improvement to many others, though full resolution may be only 5-10% according to the United States Centers for Disease Control and Prevention (CDC).

Many patients do not fully recover from CFS, even with treatment.Some management strategies are suggested to reduce the consequences of having CFS. Medications, other medical treatments, complementary and alternative medicine are considered. A systematic review has shown that CFS patients are less susceptible to placebo effects than predicted, and have a low placebo response compared to patients with other diseases. CFS is associated with chemical sensitivity, and some patients often respond to a fraction of a therapeutic dose that is normal for other conditions.