Genetic Disorders

What is Fabry Disease? Fabry Disease (FD) is a rare genetic disorder caused by a defective gene (the GLA gene) in the body. In most cases, the defect in the gene causes a deficient quantity of the enzyme alpha-galactosidase A. This enzyme is necessary for the daily breakdown (metabolism) of …

What is Becker muscular dystrophy? Becker muscular dystrophy (BMD) is one of nine types of muscular dystrophies, a group of genetic, degenerative diseases primarily affecting voluntary muscles. BMD belongs to a group of dystrophinopathies including Duchenne muscular dystrophy (DMD) and an intermediate form between DMD and BMD. The disease is …

Definition Mitochondrial disease result from failures of the mitochondria, specialized compartments present in every cell of the body (except red blood cells). Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support organ function. When they fail, less and less …

Gricelli Syndrome – Overview Gricelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. Griscelli syndrome type 1 involves severe …

Description – Acoustic Neuroma Acoustic Neuroma is also known as vestibular schwannoma. An acoustic neuroma is a benign tumor that develops when the specialized (Schwann) cells surrounding the vestibular division of the auditory nerve, grow at an abnormal rate in the internal auditory canal. The tumor if left untreated, can …

Batten Disease – Definition Batten disease is the name for a group of inherited nervous system disorders that most often begin in childhood and interfere with a cell’s ability to recycle a cellular residue called lipofuscin. Batten is commonly being used to describe the many forms of the disease, called …

Overview – Ehlers Danlos Syndrome Ehlers Danlos syndrome (EDS) is a disease that weakens the connective tissues of your body. These are things like tendons and ligaments that hold parts of your body together. EDS can make your joints loose and your skin thin and easily bruised. It also can …

Cystic Hygroma – Description A cystic hygroma is a fluid-filled sac that results from a blockage in the lymphatic system. They are also known as Lymphatic Malformation (LM). It is most commonly located in the neck or head area but can be located anywhere in the body. It may be …