Neurology
The standard test for the diagnosis of narcolepsy is the multiple sleep latency test (MSLT). The MSLT is a complex test to perform as well as to interpret. The orexin-A/hypocretin-1 test is a sensitive and specific alternative to the MSLT to diagnose type 1 narcolepsy.
The diagnosis of mitochondrial disease can be particularly challenging as the presentation can occur at any age, involve virtually any organ system, and be associated with widely varying severities. Due to the considerable overlap in the clinical phenotypes of various mitochondrial disorders, it is often difficult to distinguish these specific inherited disorders without genetic testing.
Autoimmune neurological disorders can often be treated, sometimes with full restoration of function. However, because the symptoms mimic other conditions, autoimmune neurological disorders are frequently misdiagnosed, resulting in an irreversible loss of function.
A movement disorder might be caused by the body’s immune system, which is meant to fight infections, suddenly attacking the brain. Fortunately, an “autoimmune movement disorder” can often be treated—once its cause is discovered.
Necrotizing autoimmune myopathy (NAM) is a serious but rare muscle disease strongly associated with autoantibodies to either the protein signal recognition particle (SRP) or the enzyme 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR). NAM typically manifests with subacute proximal limb muscle weakness and persistently elevated serum creatine kinase (CK) concentrations, but slower onsets can occur and complicate diagnosis.
Andrew McKeon, M.D., M.B., B.Ch., and Sean J. Pittock, M.D., neurologists and co-directors of the Mayo Clinic Neuroimmunology Laboratory in Rochester, Minnesota, answer questions about Mayo Clinic's new test.
For people with encephalitis, rapid treatment of their acute brain inflammation is critical for avoiding devastating physical and cognitive deficits. But appropriate treatment requires identifying the culprit causing the symptoms.
Mayo Clinic has launched a first-in-the-U.S. clinical test that will help patients who recently have been diagnosed with an inflammatory demyelinating disease but may be unsure of the exact disorder.
Greg Widseth was suddenly hit by a rare disease that prompted his immune system to attack his brain cells, resulting in as many as 60 seizures a day. Special blood and spinal fluid tests developed by Mayo Medical Laboratories confirmed that Widseth had antibodies known to target certain brain cells.