Rare Diseases

Some good news about Huntington disease: most of the behavioral symptoms can be managed with treatments developed for other conditions.

What is the most common risk factor for Guillain-Barré Syndrome? Plus 4 other quick questions to test your knowledge. 

A 32-year-old woman presents with common symptoms that made up a rare diagnosis never seen by the neurologist in a decades-long career.

Some studies have suggested that, over the long-term, CoQ10 may increase type 2 muscle fibers, which are sometimes atrophied in individuals with PPP.

A patient presented to the hospital with sudden-onset flaccid muscle weakness. Her family history was notable for sudden cardiac death of unknown etiology.

Strategies and take-home points on sleep paralysis and its counterpart, isolated sleep paralysis, a REM sleep-related parasomnia commonly associated with intense fear and anxiety.

Dengue infection predominantly causes arthritis, fever, headache, and rash; hemorrhagic and neurologic manifestations may also result. What was the prognosis for this patient?

A young child’s neurological exam was notable for symmetrical decreased muscle strength and absence of deep tendon reflexes in both lower extremities. Learn about the case here.

A 47-year-old man presented with a longstanding history of recurrent transient episodes of muscular weakness. What’s your diagnosis?

What are the considerations for addressing acute attacks? Are there specific strategies that have proved to be effective? These questions and more in this interview with a physician who has also “been there.”

About 30% of patients with periodic paralysis have unknown genetic mutation, making identification and treatment a challenge. Here: key points on genetics, testing, and subtypes of PPP.

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.