Diseases

Molybdenum Cofactor Deficiency Type A

Molybdenum cofactor deficiency is a rare condition characterized by brain dysfunction (encephalopathy) that worsens over time. Babies with this condition appear normal at birth, but within a week they have difficulty feeding and develop seizures that do not improve with treatment (intractable seizures). Brain abnormalities, including deterioration (atrophy) of brain tissue, lead to severe developmental delay; affected individuals usually do not learn to sit unassisted or to speak. A small percentage of affected individuals have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises.

Other features of molybdenum cofactor deficiency can include a small head size microcephaly and facial features that are described as “coarse.”

Tests reveal that affected individuals have high levels of chemicals called sulfite, S-sulfocysteine, xanthine, and hypoxanthine in the urine and low levels of a chemical called uric acid in the blood.

Because of the serious health problems caused by molybdenum cofactor deficiency, affected individuals usually do not survive past early childhood.

Mononeuritis multiplex

Mononeuritis multiplex is a neurological disorder that involves damage to at least two separate nerve areas.

Monosomy 8q12 21

A very rare chromosomal disorder where a portion of chromosome 8q is missing. The main symptoms include eye, ear and kidney abnormalities as well as mental retardation.

Monosomy 8q21 q22

A very rare chromosomal disorder where a portion of chromosome 8q is missing resulting in various abnormalities.

Montefiore syndrome

Premature closure of sutures of the skull associated with marfanoid habitus (tall stature with long and slim limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes, and hypotonia), hypotonia, abdominal hernia, developmental delay, and other anomalies. The syndrome was first observed by Shprintzen and Goldberg in the Montefiore Hospital in New York, hence the name Montefiore syndrome.

Morel’s ear

An ear deformity where the ear has no folds, is large and smooth and often has a thin edge

Morgagni-Stewart-Morel syndrome

Hyperostosis frontalis interna is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Hyperostosis frontalis interna, or a subtype of Hyperostosis frontalis interna, affects less than 200,000 people in the US population.

Morgellons

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.

Morillo-Cucci Passarge syndrome

A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.

MORM syndrome

A rare syndrome characterized by mental retardation, truncal obesity, small penis and an eye disorder.

Morquio syndrome

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.

Morquio syndrome- type B

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.

Morvan’s fibrillary chorea

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.

Motor neuro-ophthalmic disorders

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.

Motor neuron disease

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

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

Motor neuropathy peripheral with dysautonomia

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.

Mounier-Kuhn syndrome

A rare congenital condition where the trachea and bronchi are enlarged which increases the risk of respiratory infections such as bronchitis and pneumonia

Mowat-Wilson syndrome

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 1

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.

Moyamoya disease 2

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.

Moyamoya disease 3

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.

MPS 3 B

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

MPS 3 C

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.