[ Browse by Service Category : Topics Related to Genetic Disorders (1) ]

Ehlers-Danlos Syndrome

An inherited disorder of the elastic connective tissue that is characterized by soft velvety skin that is fragile and hyperelastic and bruises easily; hyperextensibility of the joints; visceral malformations; atrophic scars; pseudotumours; and calcified subcutaneous cysts.

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A genetically transmitted condition that is characterized by formation of deep-seated blisters on the skin that are filled with fluid. The blisters appear following rubbing or irritation.

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A hereditary blood disease that affects males and is characterized by greatly prolonged coagulation time. The blood fails to clot and abnormal bleeding occurs. Hemophilia is a sex-linked hereditary trait which is transmitted by normal females who carry the recessive gene.

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Huntington's Disease

An inherited disease of the central nervous system which usually has its onset in people age 25 to 55. The individual has progressive dementia with bizarre involuntary muscular twitching of the limbs or facial muscles. The posture is abnormal. The disease slowly progresses and death is usually due to an intercurrent infection.

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Marfan Syndrome

An inherited condition of the connective tissues, bones, muscles, ligaments and skeletal structure whose symptoms include an irregular and unsteady gait and a tall, lean body type with long extremities including fingers and toes. There is abnormal joint flexibility, flat feet, stooped shoulders, dislocation of the optic lens, and a weakened aorta.

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Muscular Dystrophy

A group of genetic diseases that are characterized by progressive weakness and degeneration of the skeletal muscles that control movement. There are many forms of muscular dystrophy, some noticeable at birth (congenital muscular dystrophy), others in adolescence (Becker MD), but the three most common types are Duchenne, facioscapulohumeral, and myotonic which differ in terms of pattern of inheritance, age of onset, rate of progression, and distribution of weakness. Duchenne MD primarily affects boys and is the result of mutations in the gene that regulates dystrophin, a protein involved in maintaining the integrity of muscle fibre. Onset is between three to five years and progresses rapidly. Most boys become unable to walk at age 12, and by age 20 have to use a respirator to breathe. Facioscapulohumeral MD appears in adolescence and causes progressive weakness in facial muscles and certain muscles in the arms and legs. It progresses slowly and can vary in symptoms from mild to disabling. Myotonic MD varies in the age of onset and is characterized by myotonia (prolonged muscle spasm) in the fingers and facial muscles; a floppy-footed, high-stepping gait; cataracts; cardiac abnormalities; and endocrine disturbances. Individuals with myotonic MD have long faces and drooping eyelids; men have frontal baldness.

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Tuberous Sclerosis

A rare genetic disorder, sometimes called "tuberous sclerosis complex", that is characterized by the growth of numerous noncancerous (benign) tumors that are most commonly seen in the brain, eyes, kidneys, heart, lungs and skin though any part of the body can be affected. Symptoms can range from mild to severe, depending on the size or location of the overgrowth. The condition often affects the brain, causing seizures, behavioral problems such as hyperactivity and aggression, and intellectual disability or learning problems. Some children have the characteristic features of autism spectrum disorder, a developmental disorder that affects communication and social interaction. Benign brain tumors can also develop in people with tuberous sclerosis complex and some can cause serious or life-threatening complications.

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The above terms and definitions are part of the Taxonomy of Human Services, used here by permission of INFO LINE of Los Angeles.

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