Hereditary spastic paraplegia (HSP) causes progressive weakness (paraplegia) and increased muscle tone and stiffness (spasticity) of leg muscles. French researchers studied the genes of 106 individuals with autosomal dominant hereditary ... Read More

Scientists suspect that overproduction of vascular endothelial growth factor (VEGF) by a tumor (plasmocytoma) could be responsible for POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes). Researchers at Chiba ... Read More

Winchester syndrome is a disorder in which bone is abnormally destroyed by the body. Symptoms of this inherited syndrome are short stature and skeletal deformities, cataracts, coarse facial features, and ... Read More

Researchers at Shriners Hospital for Children and McGill University in Montreal, Canada, investigated the bone tissue effects of pamidronate therapy for an average of 5.5 years in 25 children and ... Read More

Most cases of acromegaly are caused by a growth hormone-secreting tumor of the pituitary gland in the brain. Surgery is usually done to remove as much of the tumor as ... Read More

Here are summaries of several research studies about Huntington disease published in early 2006, including studies of creatine and tetrabenazine as treatment for symptoms.

This disorder, present at birth, is characterized by scaly patches on the skin, poorly developed bones and muscles in one or more limbs, and defects of the internal organs, all ... Read More

Researchers from the University of Rome injected mice with Duchenne muscular dystrophy with a viral vector expressing antisense sequences. After the injections, the mice were noted to have functional improvements, ... Read More

The biological research firm StemCells, Inc., has developed a product containing human central nervous system stem cells (known as HuCNS-SC). StemCells's research with these stem cells suggests that placement ... Read More

You may know that actor Dustin Hoffman met with several people with savant syndrome when he was developing his character Raymond Babbitt for the Oscar-winning movie, Rain Man. What you ... Read More

In February 2006 the U.S. Food and Drug Administration (FDA) approved orphan drug status for AT2101 (Amicus Therapeutics) for the treatment of Gaucher disease, a lysosomal storage disorder resulting from ... Read More

An experimental cancer drug, farnesyltransferase inhibitor (FTI), was given by researchers at University of California Los Angeles (UCLA) to mice with Hutchinson-Gilford progeria, a disorder which causes premature aging in ... Read More

Although bone marrow transplantation can be a life-saving operation, it carries a risk that the body will reject the new bone marrow, a condition called graft vs. host disease (GVHD). ... Read More

The most noticeable effect of lymphangioleiomyomatosis (LAM) is lung disease, but the disorder may also affect the lymph system and cause non-cancerous tumors in the kidneys. LAM is primarily a ... Read More

Researchers from the University of the Sacred Heart in Rome studied whether plasma levels of coenzyme Q10 were related to the prognosis of individuals with melanoma. The researchers measured plasma ... Read More

Australian researchers report in the February 2006 issue of Thorax on their study of the origins of low bone mass in adults with cystic fibrosis, an inherited exocrine disorder. The ... Read More