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Huntington Disease

Franklin J Berkey, DO and Marina M Jeffery, Doctor of Osteopathic Medicine Reviewed 06/2022
 


BASICS

DESCRIPTION

  • Hereditary neurodegenerative disease characterized by progressive motor, cognitive, and psychiatric symptoms

    • Onset of symptoms typically occurs between age 30 and 50

    • Average survival 1...

DIAGNOSIS

HISTORY

  • Patients with an affected family member may present requesting investigation in the presymptomatic stage.

  • Physical symptoms are typically noted first, presenting with choreiform moveme...

TREATMENT

GENERAL MEASURES

  • Genetic counseling prior to testing and for children of those with confirmed disease

  • Speech, swallow, occupational, and physical therapy to preserve maximal function

  • Psychiatri...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

  • Full activity as long as possible

  • Physical therapy (6)

    • Aerobic exercise alone or in combination with resistance training

    • Supervised gait training

    • Breathing exercises...

REFERENCES

1
Nance MA, Paulsen JS, Rosenblatt A, et al. A Physician's Guide to the Management of Huntington's Disease. 3rd ed. Huntington's Disease Society of America; 2011.
2
McColgan P, Tabrizi SJ. Hun...

CODES

ICD10

G10 Huntington's disease 

SNOMED

  • 58756001 Huntington's chorea (disorder)

  • 230299004 Juvenile onset Huntington's disease

  • 230300007 Late onset Huntington's disease

  • 230301006 Akinetic-rigid form of ...

CLINICAL PEARLS

  • HD is an autosomal dominantly inherited disease of insidious onset (typically) between 30 and 50 years.

  • There is no known cure, with life expectancy 10–20 years after clinical diagnosis...

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