Rare Diseases

Because symptoms of periodic paralysis may overlap with other neurological or medical conditions and genetic testing is not always routinely available, exercise test methods can be key.

A recent study has suggested that a substance called Hm-3, which is derived from crab spider toxin, may pave the way for new treatments for a subtype of the rare neuromuscular disorder, primary periodic paralysis.

Few prospective studies have been conducted to guide treatment decisions for this rare disorder. Now, a recent review describes the characteristics, diagnosis, and treatment of the group of neuromuscular disorder subtypes known as PPP.

PPP is a disabling and chronic condition marked by symptoms, such as anxiety, muscle weakness, pain, fatigue, and temporary paralysis.

A new study has found that an RNA-binding protein called TDP-43 could be a promising new biomarker for diagnosing amyotropic lateral sclerosis.

A newly synthesized compound may be the basis for a novel iron-chelation therapy in several iron-associated neurodegenerative disorders, including Alzheimer, Parkinson, and Huntington disease.

Although there is no cure for ALS, there are treatments available that can improve the quality of life and prolong survival.

Progressive supranuclear palsy (PSP), initially called Steele-Richardson-Olszewski syndrome, is a sporadic neurodegenerative disease.

What was the impact of add-on cannabidiol treatment in patients aged 2-55 years experiencing drop seizures?

Ovarian tumors are most often associated with paraneoplastic syndromes, but other tumors can produce antibodies that target CNS structures.

A genetic mutation suspected to be associated with amyotrophic lateral sclerosis risk has been confirmed through a large-scale research effort.

Alien hand syndrome, a rare neurological symptom, may be produced by a number of etiologies and more than one specific region of cerebral damage.

Who is most likely to be affected by Alice in Wonderland syndrome? Would you consider a toxicology screen or neuroimaging for afflicted patients?

There’s an exciting new treatment for refractory Tourette syndrome, but many aspects to consider before recommending this option.

Recent studies have suggested that H1N1 influenza might be the trigger for some patients, but a number of interesting questions remain.