Morgellons disease is a mysterious skin disorder characterized by disfiguring sores and crawling sensations on and under the skin. Although Morgellons disease isn't widely recognized as a medical diagnosis, experts from the Centers for Disease Control and Prevention (CDC) are investigating reports of the condition, which they refer to as unexplained dermopathy.
A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
A rare syndrome characterized by mental retardation, truncal obesity, small penis and an eye disorder.
Morquio syndrome, type A or MPS IVA is a metabolic condition that primarily affects the skeleton. The severity, age of onset, and associated symptoms vary significantly from person to person and range from a severe and rapidly progressive, early-onset form to a slowly progressive, later-onset form. The severe form is usually diagnosed between ages 1 and 3, while the milder form may not become evident until late childhood or adolescence. MPS IVA is caused by mutations in the GALNS gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (? galactosidase) needed to break it down.
A very rare syndrome characterized mainly by abnormal brain development and reduced fetal movement.
Morvan’s Syndrome, or Morvan’s fibrillary chorea (MFC), is a rare autoimmune disease named after nineteenth century French physician Augustin Marie Morvan. “La chorée fibrillaire” was first coined by Morvan in 1890 when describing patients with multiple, irregular contractions of the long muscles, cramping, weakness, pruritis, hyperhidrosis, insomnia, and delirium. [1] It normally presents with a slow insidious onset over months to years. [2] 90% of cases spontaneously go into remission, while the other 10% of cases lead to death.
A syndrome that is characterised by the occurrence of aneuploidy that can be manifested as monosomies or trisomies.
Any eye disorder that involves problems with moving the eyes which can cause vision problems and or abnormal alignment of the eyes. Examples of ocular motility disorders includes Duane retraction syndrome, Adie's syndrome, strabismus, nystagmus and ophthalmoplegia.
The motor neurone disease is a group of progressive neurological disorders that destroy motor neurones, the cells that control voluntary muscle activity including speaking, walking, breathing, swallowing and general movement of the body. These five conditions are amyotrophic lateral sclerosis, primary lateral sclerosis, progressive muscular atrophy, progressive bulbar palsy and pseudobulbar palsy. They are neurodegenerative in nature and cause increasing disability and eventually, death.
Motor neuropathy is a clinical entity which leads to consideration of a wide spectrum of peripheral nerve disorders. Firstly, it may be distinguished from other causes of peripheral motor involvement such as muscle diseases and disorders of the neuromuscular junction. Secondly, it may be discussed in two different forms: acute and chronic. Acute chronic neuropathies are mainly observed in Guillain-Barré syndrome, in which electrophysiological studies allow us to recognize the classical demyelinating form and the axonal form. The other causes of acute motor neuropathy are mainly poliomyelitis and porphyrias. Chronic motor neuropathies are mainly observed in motor neuron diseases, mainly amyotrophic lateral sclerosis, but also Kennedy's disease and other lower motor neuron diseases which may be inherited or acquired. The other causes are multifocal motor neuropathy and the predominantly motor forms of chronic inflammatory demyelinating polyneuropathy. The characterization of these different types of chronic neuropathy is of major importance because of the therapeutic consequences which may lead to the proposal of specific treatments. A rare disorder involving progressive muscle weakness. The rate of progression, severity and age of onset is variable
A very rare syndrome characterized mainly by slowly progressive muscle weakness and wasting and abnormal function of the bodies automatically regulated processes resulting in excess sweating and other problems.
A rare congenital condition where the trachea and bronchi are enlarged which increases the risk of respiratory infections such as bronchitis and pneumonia
A very rare syndrome characterized mainly by ataxia, spasticity and eye anomalies
Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.
Moyamoya disease is an extremely rare disorder characterized by progressive intracranial vascular stenoses of the circle of Willis, resulting in successive ischemic events. Hemorrhagic events can also occur. The condition leads to irreversible blockage of the carotid arteries to the brain as they enter into the skull. It is a disease that tends to affect children and adults in the third to fourth decades of life. In children it tends to cause strokes or seizures. In adults it tends to cause bleeding or strokes. The clinical features are cerebral ischaemia (strokes), recurrent TIAs, sensorimotor paralysis (numbness in the extremities), convulsions and/or migraine-like headaches.
A very rare disorder involving progressive blocked arteries at the base of the brain (basal ganglia). Type 2 is caused by a genetic defect on chromosome 17q25.
A very rare disorder involving progressive blocked arteries at the base of the brain (basal ganglia). Type 3 is caused by a genetic defect on chromosome 8q23.
Sanfilippo disease is a mucopolysaccharide disease also known as MPS lll. It takes its name from Dr. Sanfilippo who was one of the doctors from the United States who described the condition in 1963. To date four different enzyme deficiencies have been found to cause Sanfilippo disease and so the condition is described as type A,B,C or D. Type A is the most common form found in most populations. MPS lllA is missing the enzyme heparan N sulphatase MPS lllB is missing alpha-N-acetylglucosaminidase MPS lllC is missing acetyl-CoA: alpha-glucosaminide acetyltransferase MPS lllD is missing N-acetylglucosamine-6-sulphatase However it is important to note that there are no significant clinical (physical) differences between the different subtypes of MPS III, although there have been some very mild cases of the B form where the sufferers have remained relatively unaffected into adult life. The latest understanding is that some people seem to produce some enzyme activity which helps to slow down the progression of the disease while those with more severe symptoms appear to have no enzyme activity at all
A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) due to deficiency of an enzyme called acetyl-CoA:alpha-glucosamide N-acetyltransferase. Mucopolysaccharide levels build up and are then deposited in various tissues.
A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) due to deficiency of an enzyme called N-acetylglucosamine-6-sulfate sulfatase. Mucopolysaccharide levels build up and are then deposited in various tissues.
A rare form of osteosclerosis caused by a lack of calcium in the bones.
Pityriasis lichenoides is a rare cutaneous disorder of unknown etiology. Pityriasis lichenoides encompasses a spectrum of clinical presentations ranging from acute papular lesions that rapidly evolve into pseudovesicles and central necrosis (pityriasis lichenoides et varioliformis acuta or PLEVA) to small, scaling, benign-appearing papules (pityriasis lichenoides chronica or PLC). Although historically, the term Mucha-Habermann disease has referred only to PLEVA, the term applies broadly to the entire spectrum of disease including PLC. A rare febrile ulceronecrotic variant has been reported, which is a severe form of PLEVA with high fever and marked constitutional symptoms. Lesions may self-involute and resolve completely over weeks, or new lesions occasionally may appear in crops, waxing and waning spontaneously for months to years thereafter
Muckle–Wells syndrome (MWS, also known as UDA), is a rare autosomal dominant disease which causes sensorineural deafness, recurrent hives, and can lead to amyloidosis. Individuals with MWS often have episodic fever, chills, and joint pain. As a result, MWS is considered a type of periodic fever syndrome. MWS is caused by a defect in the CIAS1 gene which creates the protein cryopyrin. MWS is closely related to two other syndromes, familial cold urticaria and neonatal onset multisystem inflammatory disease—in fact, all three are related to mutations in the same gene and subsumed under the term cryopyrin-associated periodic syndromes (CAPS).
Mucolipidosis type IV is an inherited disorder characterized by delayed development and vision impairment that worsens over time.
People with typical mucolipidosis type IV have delayed development of mental and motor skills (psychomotor delay). Motor skills include sitting, standing, walking, grasping objects, and writing. Mutations in the MCOLN1 gene cause mucolipidosis type IV. This gene provides instructions for making a protein called mucolipin-1. This protein is located in the membranes of lysosomes and endosomes, compartments within the cell that digest and recycle materials. While its function is not completely understood, mucolipin-1 plays a role in the transport (trafficking) of fats (lipids) and proteins between lysosomes and endosomes.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.
Mucolipidosis type I, also known as sialidosis, is a rare inherited metabolic disorder characterized by a deficiency of the enzyme neuraminidase (sometimes referred to as sialidase). Deficiency of neuraminidase results in the abnormal accumulation of toxic materials in the body. Sialidosis is divided into two types (i.e., type I and type II). Sialidosis type I usually becomes apparent during the second decade of life with the development of sudden involuntary muscle contractions (myoclonus), distinctive red spots (cherry-red macules) in the eyes, and sometimes additional neurological findings. Sialidosis type II is usually more severe than sialidosis type I. Type II often begins during infancy or later during childhood and is characterized by cherry-red macules, mildly coarse facial features, skeletal malformations and mild cognitive impairment. Sialidosis is inherited as an autosomal recessive trait.
Mucolipidosis type II alpha/beta, also referred to as Inclusion-cell (I-cell) disease, is part of the lysosomal storage disease family and results from deficiency of several lysosomal enzymes. The coding and translation of the genes for these enzymes is normal, however, they are not normally transported to the lysosomes from the endoplasmic reticulum because they lack a specific targeting signal. Without the proper functioning of N-acetylglucosamine-1-phototransferase, a build up of substances occur when enzymes are unable to travel inside of the lysosome.
Mucolipidosis II alpha/beta is a rare disorder, although its exact prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 individuals worldwide. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Mucolipidosis (ML) III, also called as Pseudo-Hurler polydystrophy, a rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (glycoproteins and glycolipids) in body tissues due to deficiency of an enzyme (UDP-N-acetylglucosamine-I-phosphotransferase) needed to process it. Mucolipidosis III is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3 or 4, but some children are not diagnosed until later on in life.
Mucopolysaccharidosis I (MPS I) is a condition that affects many parts of the body. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. MPS I is caused by mutations in the IDUA gene. These mutations lead to reduced levels or the complete lack of the IDUA enzyme. Without the proper amount of this enzyme, large sugar molecules called glycosaminoglycans (GAGs) accumulate within cells called lysosomes. This causes the lysosomes to increase in size, causing many different organs and tissues of the body to become enlarged. This leads to the medical problems seen in the condition.
MPS I was once divided into three separate syndromes: Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome, listed from most to least severe. Because no biochemical differences have been identified and the clinical findings overlap, the condition is now divided into two subtypes,: severe MPS I and attenuated MPS I. People with severe MPS I typically have an earlier onset of symptoms, a decline in intellectual function, and a shorter lifespan. Although there is no cure for MPS I, bone marrow transplant and enzyme replacement therapy are treatment options that may help manage the symptoms of this condition.