An eye disease called Leber’s hereditary optic atrophy; and
A type of epilepsy called MERRF which stands for Myoclonus Epilepsy with Ragged Red Fibers.
The mitochondria, as mentioned, are normal structures located outside the nucleus in the cell’s cytoplasm. Each mitochondrion has a chromosome made of DNA that is quite different from the better known chromosomes in the nucleus. The mitochondrial chromosome is much smaller; it is round (whereas the chromosomes in the nucleus are normally shaped like rods); there are many copies of the mitochondrial chromosome in every cell; and no matter whether we are male or female, we inherit our mitochondrial chromosome from our mother.
MELAS and all other mitochondrial diseases were entirely enigmatic before it was discovered that they were due to mutations not in regular chromosomes but in the chromosome of mitochondria.
- Syndrome, Meniere
A condition with recurrent vertigo accompanied by ringing in the ears (tinnitus) and deafness. Symptoms include vertigo, dizziness, nausea, vomiting, loss of hearing (in the affected ear), and abnormal eye movements. Meniere syndrome or disease is due to dysfunction of the semi- circular canals (endolymphatic sac) in the inner ear. The treatment of Meniere disease […]
- Syndrome, mucocutaneous lymph node
A syndrome of unknown origin, mainly affecting young children. It causes fever, reddening of the eyes (conjunctivitis) and lips and mucous membranes of the mouth, ulcerative gum disease (gingivitis), swollen glands in the neck (cervical lymphadenopathy), and a rash that is raised and bright red (maculoerythematous) in a glove-and- sock fashion over the skin of […]
- Syndrome, Munchhausen
Recurrent feigning of catastrophic illnesses. Munchhausen syndrome is a psychological disorder that is characterized by the recurrent presentation of the patient for treatment of an acute and often dire illness that is, in reality, not present. The person with Munchhausen syndrome usually gives a plausible and dramatic history. All of it is entirely false. The […]
- Syndrome, nervous colon
A common gastrointestinal disorder involving an abnormal condition of gut contractions (motility) characterized by abdominal pain, bloating, mucous in stools, and irregular bowel habits with alternating diarrhea and constipation, symptoms that tend to be chronic and to wax and wane over the years. Although the disorder can cause chronic recurrent discomfort, it does not lead […]
- Syndrome, Noonan (NS)
A multifaceted genetic disorder characterized by a series of birth defects (congenital malformations) including dysmorphic (malformed) facial features, short stature after birth (postnatal growth retardation), webbing of the neck (pterygium colli), caved-in chestbone (pectus excavatum), cardiovascular problems (pulmonic stenosis and hypertrophic cardiomyopathy), bleeding tendency and, in boys, testes that do not descend normally into the […]