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Facioscapulohumeral Muscular Dystrophy: Genetic Overview and Recent Advancements

FSHD Genetic Overview Facioscapulohumeral muscular dystrophy (FSHD) is a complex disorder both on the clinical and molecular level. Clinical presentations can be highly variable between families and within families. The clinical spectrum of FSHD ranges from asymptomatic or very few, mild symptoms to a severe Read more

  • August 19, 2016
  • 12:51pm EST

How to speak Genetics

Lesson 1: A quick guide to a genetics conversation Let’s work from “big” to “small” when talking in terms of molecular genetics. The largest unit is a chromosome. Within each chromosome, there are several genes. Genes are made up of a combination of four bases Read more

  • February 26, 2016
  • 01:57pm EST

Five Questions with Susan E. Hahn, Genetic Counselor

We recently sat down with genetic counselor Susan Hahn to chat about what drives her and her success. How does what you’re doing compare to what you thought you would be doing when you set out on your career? I love this question! When I Read more

  • November 16, 2015
  • 10:55am EST

Clinical Skill is Paramount in Choosing the Best Ataxia Test

When a patient presents with ataxia, a diagnostician must synthesize an extraordinary amount of clinical information to guide his or her differential diagnosis. Genetic testing is guided by this process and is based on the findings of a thorough neurological exam, family history, and other Read more

  • October 26, 2015
  • 01:38pm EST

Motor Neuron Diseases: The Challenge of Early Diagnosis

Motor neuron diseases encompass a wide spectrum of neurological disorders, but common to all is a period of diagnostic uncertainty early in the disease, based on clinical grounds alone. That uncertainty can have important consequences for patients, including psychological stress, expenses incurred from multiple clinical Read more

  • September 30, 2015
  • 11:23am EST

Effectiveness of Immunotherapy for Patients with Autoimmune Epilepsy

Epilepsies of unknown etiology are estimated to account for approximately 23-35% of epilepsy cases.1, 2 Studies have suggested that a portion of these cases may have an autoimmune etiology.  Clinical features suggestive of autoimmune epilepsy include: acute to subacute onset, personal or family history of Read more

  • July 28, 2015
  • 04:02pm EST

Dementia and Autoimmunity: What You Need to Know to Make an Accurate Diagnosis

Alzheimer disease, frontotemporal dementia (FTD), and Creutzfeldt-Jakob disease (CJD) are among the most recognized forms of dementia.  Each of these neurodegenerative forms has distinct features. However, they also have overlapping characteristics, many of which are similar to those of non-neurodegenerative dementia, such as those with Read more

  • June 30, 2015
  • 12:06pm EST