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.
A very rare inherited disorder characterized by retarded growth, mental retardation, bone abnormalities and distinctive facial featuresMental retardation, growth deficiency, midfacial hypoplasia, hearing loss, generalized muscular hypertrophy, joint limitation, and skeletal abnormalities are the cardinal features of this syndrome
Myhre syndrome is a very rare inherited disorder with features affecting many systems and functions of the body. It is characterized by retarded growth, mental retardation, bone abnormalities and distinctive facial features.
A deficiency of myoadenylate deaminase which affects the process of energy conversion which in turn can cause muscle problems.
A rare tumor that tends to occur mainly in the soft tissue and internal body organs. The more common specific locations are soft tissue, mediastinum, pancreas, gastrointestinal and genitourinary tracts, mouth, skin, breast, nerve, bone and central nervous system. The type and severity of symptoms is determined by the location and size of the tumor
Myoglobinuria is the presence of myoglobin in the urine, usually associated with rhabdomyolysis or muscle destruction. Myoglobin is present in muscle cells as a reserve of oxygen.
A dominantly inherited condition which causes high levels of myoglobin in the urine due to destruction of muscle tissue. Episodes of muscle destruction was usually preceded by fever, virus, alcohol us end excessive exercise.
Recurring episodes of high urine myoglobin levels due to muscle destruction. The episodes are triggered by prolong exercise or infection.
KCNQ2 and KCNQ3 are two homologous K+ channel subunits that can combine to form heterotetrameric channels with properties of neuronal M channels. Loss-of-function mutations in either subunit can lead to benign familial neonatal convulsions (BFNC), a generalized, idiopathic epilepsy of the newborn. We now describe a syndrome in which BFNC is followed later in life by myokymia, involuntary contractions of skeletal muscles. All affected members of the myokymia/BFNC family carried a mutation (R207W) that neutralized a charged amino acid in the S4 voltage-sensor segment of KCNQ2. This substitution led to a shift of voltage-dependent activation of KCNQ2 and a dramatic slowing of activation upon depolarization. Myokymia is thought to result from hyperexcitability of the lower motoneuron, and indeed both KCNQ2 and KCNQ3 mRNAs were detected in the anterior horn of the spinal cord where the cells of the lower motoneurons arise. We propose that a difference in firing patterns between motoneurons and central neurons, combined with the drastically slowed voltage activation of the R207W mutant, explains why this particular KCNQ2 mutant causes myokymia in addition to BFNC. Myokymia is characterized by spontaneous involuntary contraction of muscle fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Localized myokymic activity can have its cause in circumscribed disturbances of peripheral nerves or the central nervous system, e.g., in snake poisoning, hypoxia, radiation therapy, pontine tumors, or multiple sclerosis. Generalized myokymia, with or without associated muscle stiffness and delayed relaxation is a feature of Isaacs' syndrome (including acquired neuromyotonia) (1), episodic ataxia type 1 (2), and Morvan's fibrillary chorea (3). In some patients the spontaneous muscle movement occurs without apparent underlying cause, and the frequently positive family history (≈30%) indicates that genetic factors are among the possible causes of idiopathic generalized myokymia (IGM) (4). IGM affects men and women equally, and the disease often comes to their attention because of stiffness, cramps, weakness, and muscle twitching. The clinical features can include generalized myokymia, hyporeflexia, grip myotonia, and calf hypertrophy. The symptoms often improve with carbamazepine or phenytoin treatment
Myopathic carnitine deficiency is attributed to impairment in the active transportation of carnitine from the plasma into muscle cells. Hence, carnitine level is reduced in muscles and is normal or slightly decreased in plasma and liver.
A very rare syndrome characterized mainly by muscle disease and diabetes mellitus. The condition was highly variable with respect to the severity, range and onset of symptoms.
A rare syndrome involving cataracts, reduced hormone production by ovaries or testes and myopathy which mainly involves the facial and muscles close to the trunk.
A rare disorder characterized by muscle weakness and as well as weakness or paralysis of the external eye muscles. Severity of symptoms are variable
A very rare syndrome characterized mainly by muscle disease, retarded growth, mental retardation and abnormally placed urethral opening.
An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the TRIM32 protein .
A rare disorder characterized by muscle weakness and cataracts.
A rare disorder characterized mainly by muscle weakness, paralysis of eye muscles, lack of reflexes and partial hearing loss.
A rare disorder of the bone marrow and skeletal muscles which manifests as muscle disease and anemia. Progressive intolerance to exercise usually starts during childhood with anemia occurring around adolescence.