Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Muscular fibrosis, multifocal - obstructed vessels as a "rare disease". Source - Orphanet
A very rare genetic defect which affects muscles and causes rapid fatigue on exertion and muscle cramping and weakness.
n October 1989, the health department in New Mexico was notified of 3 patients with an unexplained acute illness characterized by intense myalgia and peripheral blood eosinophilia. These 3 patients had ingested preparations containing L-tryptophan (LT). Within weeks, a nationwide outbreak of this disease occurred. The disease was termed eosinophilia-myalgia syndrome (EMS). In November 1989, for the purpose of nationwide surveillance, the US Centers for Disease Control and Prevention (CDC) defined this syndrome according to 3 criteria. These criteria are (1) a blood eosinophil count greater than 1000 cells/µL, (2) incapacitating myalgia, and (3) no evidence of infection (eg, trichinosis) or neoplastic conditions that would account for these findings. According to the CDC definition, consumption of L-tryptophan was not required for the diagnosis of EMS. Shortly thereafter, 2 case-control studies initiated by the health departments in New Mexico and Minnesota confirmed a strong association between the use of a specific brand of L-tryptophan and development of EMS. Analysis of implicated lots of LT identified many contaminants. The best-characterized of these is 1,1-ethylidenebis (L-tryptophan) (EBT), a tryptophan dimer. With the recall of L-tryptophan from the market in November 1989, a precipitous fall was observed in the incidence of EMS. However, contaminated L-tryptophan may not be the only cause of EMS. According to one estimate, 14% of EMS cases were not related to LT. Non–LT-related cases were more likely to be associated with symptoms of peripheral edema, rash, sclerodermalike skin change, alopecia, neuropathy and lower mean eosinophil count, fewer pulmonary symptoms, and a better prognosis compared with the LT cases. A review of toxic oil syndrome (TOS) cases that affected many thousands of Spaniards in the early 1980s and were associated with adulterated rapeseed oil reveals that TOS shares many clinical and histopathological features with EMS.
Due to the life style that we live today we might very often feel tired. The tiredness is prolonged in some cases and this indicates that the person is suffering from ME. It disorder is also known as chronic fatigue syndrome. Though fatigue and tiredness is experienced by everybody in this case the intensity and the duration is more. They are also accompanied with various other symptoms. This discomfort is also referred as myalgic encephalomyelitis. Many suggest that this disorder is due to the presence of some viral infection along with stress but there is no evidence that it is a contagious disease.
Myasthenia gravis is a disorder that causes weakness of the skeletal muscles, which are muscles that the body uses for movement. The weakness most often starts in the muscles around the eyes, causing drooping of the eyelids (ptosis) and difficulty coordinating eye movements, which results in blurred or double vision. In a form of the disorder called ocular myasthenia, the weakness remains confined to the eye muscles. In most people with myasthenia gravis, however, additional muscles in the face and neck are affected. Affected individuals may have unusual facial expressions, difficulty holding up the head, speech impairment (dysarthria), and chewing and swallowing problems (dysphagia) that may lead to choking, gagging, or drooling.
Other muscles in the body are also affected in some people with myasthenia gravis. The muscles of the arms and legs may be involved, causing affected individuals to have changes in their gait or trouble with lifting objects, rising from a seated position, or climbing stairs. The muscle weakness tends to fluctuate over time; it typically worsens with activity and improves with rest.
Weakness of the muscles in the chest wall and the muscle that separates the abdomen from the chest cavity (the diaphragm) can cause breathing problems in some people with myasthenia gravis. About 10 percent of people with this disorder experience a potentially life-threatening complication in which these respiratory muscles weaken to the point that breathing is dangerously impaired, and the affected individual requires ventilation assistance. This respiratory failure, called a myasthenic crisis, may be triggered by stresses such as infections or reactions to medications.
People can develop myasthenia gravis at any age. For reasons that are unknown, it is most commonly diagnosed in women younger than age 40 and men older than age 60. It is uncommon in children, but some infants born to women with myasthenia gravis show signs and symptoms of the disorder for the first few days or weeks of life. This temporary occurrence of symptoms is called transient neonatal myasthenia gravis.
Myasthenia gravis (MG) is an autoimmune disease of the neuromuscular junction caused by antibodies that attack components of the postsynaptic membrane, impair neuromuscular transmission, and lead to weakness and fatigue of skeletal (voluntary) muscles. This can be generalised or localised to certain muscle groups, and involvement of the bulbar and respiratory muscles can be life threatening.
The exact cause of myasthenia gravis is unknown. In some cases, it is linked to tumours of the thymus.
Myasthenia gravis can affect people at any age. It is most common in young women and older men. Current estimates place the prevalence at a high value of about 20 per 100,000.
Myasthenia gravis can affect people at any age. It is most common in young women and older men. Current estimates place the prevalence at a high value of about 20 per 100,000.
Myasthenia gravis can be classified according to the type, age of onset, antibody specificity and thymus histology.
1. course type:
2. age of onset:
3. antibody specificity:
4. pathology of the thymus
A rare genetic condition characterized by weakness of the chest and pelvic girdle muscles.
A genetic, nonprogressive neuromuscular disorder causing muscle weakness. The severity of symptoms is variable and stress and illness can exacerbate symptoms.
A rare disorder involving progressive muscle wasting and weakness of variable severity depending on the exact origin of the genetic defect. The problem arises from defective processes at the junction of nerve and muscle cells
Mycetoma (also known as astinomycotic mycetoma or maduromycosis), is a slow-growing bacterial or fungal infection focused in one area of the body, usually the foot. For this reason-and because the first medical reports were from doctors in Madura, India-an alternate name for the disease is Madura foot. The infection is characterized by an abnormal tissue mass beneath the skin, formation of cavities within the mass, and a fluid discharge. As the infection progresses, it affects the muscles and bones; at this advanced stage, disability may result.
Infection with an opportunistic group of bacteria. It tends to occur in immunocompromised people such as those with HIV.
An infectious disease caused by Mycobacterium fortuitum which can be found in soil, dust and water. It usually causes infection of the skin and surrounding area usually after some sort of skin trauma such as an injury or surgery.
Mycobacterium tuberculosis (MTB) is a pathogenic bacterial species in the genus Mycobacterium and the causative agent of most cases of tuberculosis.[1] First discovered in 1882 by Robert Koch, M. tuberculosis has an unusual, waxy coating on the cell surface (primarily mycolic acid), which makes the cells impervious to Gram staining; acid-fast techniques are used instead. The physiology of M. tuberculosis is highly aerobic and requires high levels of oxygen. Primarily a pathogen of the mammalian respiratory system, MTB infects the lungs, causing pneumonia.[1] The M. tuberculosis genome was sequenced in 1998
Mycoplasma pneumonia is an infection of the lungs caused by Mycoplasma pneumoniae (M. pneumoniae).
Mycosis fungoides (pronounced “my-KOH-sis fun-GOY-deez”) is a blood cancer that happens when white blood cells called T cells transform into malignant (cancer) cells. T cells are a kind of lymphocyte. Lymphocytes fight harmful pathogens in your body, like viruses and bacteria. With mycosis fungoides, T cells transform into cancer cells that affect your skin.
Mycosis fungoides is a type of cutaneous T-cell lymphoma (CTCL). CTCL is a group of rare blood cancers that cause changes in your skin, like itchiness, rashes, plaques or tumors.
Although mycosis fungoides affects your skin, it’s not a form of skin cancer because your T cells — not skin cells — become cancerous.
Mycosis fungoides is a disease in which T-cell lymphocytes (a type of white blood cell) become malignant (cancerous) and affect the skin. This condition is one of the most common types of T-cell lymphoma. Mycosis fungoides is characterized by a scaly, red rash that develops on the skin, particularly on areas that are not usually exposed to the sun. The rash may last for months or years without causing any symptoms. Over time, a thin, reddened, eczema-like rash may develop, followed by thickened, red patches of skin. Finally, tumors form which may develop into ulcers and become infected. Mycosis fungoides is difficult to cure. Treatment is usually palliative, with the intention of relieving symptoms and improving the quality of life.
Disorders where the protective myelin sheath around nerves is destroyed which affects the transmission of nerve signals. The severity of symptoms is determined by the degree of myelin destruction and the nerves affected. Multiple sclerosis is an example of a myelin sheath disease.
Myelitis is an inflammation of the medulla oblongata of the brain. It is a disease of the spinal cord in which there is demyelination. A disorder of the lower spinal cord in adult males resulting in progressive paraplegia. The onset of the disorder is typically sudden. Acute transverse myelitis, which affects the entire thickness of the spinal cord, produces both motor and sensory dysfunctions.
A rare genetic disorder characterized by cerebellar ataxia (nervous system disorder that causes unsteadiness and incoordination) and pancytopenia (shortage of all types of blood cells).
Chronic myelocytic (myeloid, myelogenous, granulocytic) leukemia is a disease in which cells that normally would develop into neutrophils, basophils, eosinophils, and monocytes become cancerous. * People pass through a phase in which they have nonspecific symptoms such as tiredness, anorexia, and weight loss. * As the disease progresses, the lymph nodes and spleen enlarge, and people may also be pale and bruise or bleed easily. * Blood tests, bone marrow examination, and chromosome analysis are needed for diagnosis. * Treatment is with imatinib Some Trade Names GLEEVEC or with high doses of chemotherapy drugs followed by stem cell transplantation. Chronic myelocytic leukemia (CML) may affect people of any age and of either sex but is uncommon in children younger than 10 years. The disease most commonly develops in adults between the ages of 40 and 60. The cause usually is a rearrangement of two particular chromosomes into what is called the Philadelphia chromosome. The Philadelphia chromosome produces an abnormal enzyme (tyrosine kinase), which is responsible for the abnormal growth pattern of the white blood cells in CML. In CML, most of the leukemia cells are produced in the bone marrow, but some are produced in the spleen and liver. In contrast to the acute leukemias, in which large numbers of immature white blood cells (blasts) are present, the chronic stage of CML is characterized by marked increases in the numbers of normal-appearing white blood cells and sometimes platelets. During the course of the disease, more and more leukemia cells fill the bone marrow and others enter the bloodstream. Eventually the leukemia cells undergo more changes, and the disease progresses to an accelerated phase and then inevitably to blast crisis. In blast crisis, only immature leukemia cells are produced, a sign that the disease has become much worse. Massive enlargement of the spleen is common in blast crisis, as well as fever and weight loss.
A rare group of blood and bone marrow diseases which contains features of myelodysplastic and myeloproliferative disease. Myelodysplastic disease is when the immature blood cells do not develop into normal functioning mature cells. Myeloproliferative disease is where excessive numbers of blood cells are made.
Myelodysplastic syndromes (MDS) are a rare group of blood disorders characterized by abnormal development of blood cells within the bone marrow. Individuals with MDS have abnormally low blood cell levels (low blood counts).
Signs and symptoms associated with MDS include dizziness, fatigue, weakness, shortness of breath, bruising and bleeding, frequent infections, and headaches. In some cases, MDS may progress to bone marrow failure or an acute leukemia. The exact cause of MDS is unknown. It sometimes runs in families, but no disease-causing gene has been identified. Treatment depends on the affected individual's age, general health, and type of MDS and may include red cell and/or platelet transfusions and antibiotics.
Myelofibrosis is a disorder of the bone marrow, in which the marrow is replaced by fibrous (scar) tissue. When the bone marrow is scarred, it cannot make enough blood cells. This leads to anemia, weakness, fatigue, and often an enlarged spleen. Myelofibrosis is an uncommon type of chronic leukemia — a cancer that affects the blood-forming tissues in the body. Myelofibrosis belongs to a group of diseases called myeloproliferative disorders. The condition occurs when blood stem cells develop somatic mutations in the JAK2, MPL, CALR, and TET2 genes. Other genes may also be involved. The condition is generally not inherited. Although myelofibrosis can occur at any age, it typically develops after the age of 50. In most cases, myelofibrosis gets progressively worse. Treatment is aimed at relieving signs and symptoms and may include medications, blood transfusions, chemotherapy, radiation therapy and surgery.
Spleen enlargement caused by myeloid cell (any leukocyte that isn't a lymphocyte) proliferation. The condition occurs with no obvious cause and is thus termed idiopathic
Myeloid/natural killer (NK) cell precursor acute leukemia is a rare neoplasm, which is characterized by high incidence of extramedullary infiltration, especially in the mediastinum and lymph nodes, an aggressive course and poor prognosis.
A disorder where and enzyme (myeloperoxidase) deficiency which impairs the ability of the body's immune system to destroy invading bacteria and other pathogens. The condition may be due to inherited genetic anomalies or such things as lead poisoning, pregnancy, sepsis, lead poisoning and leukemias. Many patients are asymptomatic and symptomatic patients are more prone to serious fungal infections
MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts).
MYH9-related disorder was previously thought to be four separate disorders: May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, and Sebastian syndrome. All of these disorders involved thrombocytopenia and enlarged platelets and were distinguished by some combination of hearing loss, renal disease, and cataracts. When it was discovered that these four conditions all had the same genetic cause, they were combined and renamed MYH9-related disorder.
A rare disorder characterized by mental retardation, retarded growth before and after birth, early-onset deafness and facial anomalies as well as other problems
A rare recessively inherited X-linked disorder characterized by hearing impairment from birth and hypogonadism.