Rare Diseases

Neuralgic Amyotrophy 

Neuralgic Amyotrophy – Introduction Also Called Types Epidemiology Who Is Most Affected Incidence/Prevalence Possible Risk Factors Associated Conditions Etiology and Pathogenesis Causes History and Physical History Chief Concern (CC) History of Present Illness (HPI) Family History (FH) Physical General Physical Skin Neuro Diagnosis Making the Diagnosis Differential Diagnosis Testing Overview Imaging Studies Cerebrospinal Fluid (CSF) Analysis …

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Neuromyelitis Optica Spectrum Disorder  

Neuromyelitis Optica Spectrum Disorder   Synonyms Epidemiology & Demographics Incidence Prevalence Predominant Sex & Age Peak Incidence Risk Factors Genetics Physical Findings & Clinical Presentation Findings depend on the location of the CNS lesion(s) and may include the following: Etiology Differential Diagnosis Optic Neuritis Transverse Myelitis Workup NMOSD remains a clinical diagnosis, supported by serologic studies …

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Lymphocytic Hypophysitis 

Lymphocytic Hypophysitis  Alarm Signs and Symptoms Epidemiology Etiology and Risk Factors What causes Lymphocytic Hypophysitis? Risk Factors What increases the risk of Lymphocytic Hypophysitis? Diagnosis Approach to Diagnosis Workup History Physical Examination Laboratory Tests Imaging Studies Diagnostic Procedures Possible presenting symptoms in adults with pituitary hormone deficiencies Hormone deficiency Presenting symptoms Adrenocorticotropic hormone Acute: weakness, …

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Li Fraumeni syndrome

The early start of numerous primary malignancies, including as brain tumors, adrenocortical carcinoma (ACC), leukemias, breast cancer, soft tissue and bone sarcomas, and other cancers, is the hallmark of this uncommon genetic cancer predisposition disease. Incidence How common is Li Fraumeni syndrome? More than 400 families with Li-Fraumeni (SLF) have been described in the literature.  …

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Broken heart syndrome

Broken heart syndrome This is a rare heart disease characterized by acute heart failure triggered by emotional or physical stress.  Cardiac wall movement abnormalities resolve within a few months.  Symptoms resemble those of acute coronary syndrome (ACS). Synonyms Ampullary cardiomyopathy Bulge cardiomyopathy Stress-induced cardiomyopathy Takotsubo cardiomyopathy Apical swelling syndrome Transient apical bulge syndrome of the …

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Clarksons disease

Clarksons disease Systemic capillary leak syndrome (SCLS) is a dangerous systemic condition characterized by increased capillary permeability. The condition is characterized by episodes of hypotension, edema, and hypovolemia. Synonyms Clarkson’s syndrome Capillary leak syndrome Incidence <1/1,000,000 How common is Clarksons disease? SCLS has been reported in fewer than 150 cases since it was first described …

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Acrogeria

Acrogeria A rare premature aging syndrome characterized by atrophy of the skin and subcutaneous tissue involving predominantly the distal parts of the extremities, resulting in prematurely aged appearance of the hand and feet. Another prominent feature is the characteristic facies with hollow cheeks, beaked nose, and owl-like eyes. Additional, non-dermatological manifestations, like bone anomalies have …

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