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Emery-Dreifuss Disease

  • About the disorder...

- Type of muscular dystrophy

- Genetic and degenerative disease

- Rare

- Affects less than 200,00 people in the US

Symptoms

- Muscular weakness

- "Toe Walking"

- Stiff joints

Sources

Jacqueline Perron-Smith

Background

- Alan Emery and Fitz Dreifuss in the 1960's

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Prognosis & Treatment

- No treatments

- Important Procedures

mARKING pERIOD 3

hUMAN ANATOMY AND pHYSIOLOGY

Diagnosis

- Family history

- Examination

- Blood Tests (CK level)

Chromosomes & Genes

- X linked recessive trait

- Linked to DNA markers around Xq28

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