What is hemicrania continua (HC) Hemicrania continua (HC) is a rare disorder that may have a prevalence of up to 1% of the population. HC is more common in females than males, 1.6:1. The onset is often during the third decade of life with a range from the first to seventh decades. The pain is …
Sarcoidosis -15 Interesting Facts Sarcoidosis is a multisystem granulomatous disease with widely varied presentation. In the United States, onset is typically in young or middle-aged adults, with higher prevalence in the black and female subpopulations Presentations with the most diagnostic specificity include asymptomatic bilateral hilar adenopathy, acute onset of Löfgren syndrome (ie, fever, arthralgia, erythema …
What is Stiff Person Syndrome (SPS) Rare neurologic disorder characterized by severe muscle rigidity Stiff Person Syndrome is a fluctuating motor disturbance characterized by persistent muscular stiffness due to coactivation of agonist and antagonist muscles with superimposed spasms. As with tetanus, generalized spasms can be precipitated by movements, noise, touch, or emotional stimulation Unlike tetanus, …
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Interesting Facts of Tay Sachs Disease Tay Sachs disease is an autosomal recessive lipid storage disorder caused by HEXA gene mutations and characterized by progressive neurodegeneration Carrier frequency of mutations involved in Tay Sachs disease is highest among individuals of Ashkenazi Jewish and Central-eastern European descent Classified into 3 forms depending on timing of symptom appearance: infantile …
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What is Kugelberg Welander syndrome Rare hereditary neuromuscular disorder that usually manifests during the first and second decades of life Some clinical manifestations are similar to Tay-Sachs, such as wasting and weakness of arm and leg muscles Distinguishing clinical feature of Kugelberg-Welander syndrome is scoliosis; hexosaminidase levels are within reference range Distinguish by molecular testing …
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Interesting Facts Vestibular schwannoma is a rare, benign tumor originating from Schwann cells in the vestibular portion of the eighth cranial nerve in the inner ear Majority of these tumors are unilateral; bilateral tumors typically occur in association with neurofibromatosis type 2 Hearing loss is the most common presenting symptom; other symptoms include tinnitus; vertigo; …
Synopsis Key Points Wolff Parkinson White syndrome (WPW) is a ventricular preexcitation syndrome associated with an extranodal accessory pathway 1 2 Patients may be asymptomatic or present with paroxysmal supraventricular tachycardia or atrial fibrillation. Rarely, atrial fibrillation degenerating to ventricular fibrillation and sudden cardiac death may be the initial presentation In sinus rhythm, the ECG may be …
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