Thomsen’s disease (myotonia congenita)

Published on 05/05/2015 by admin

Filed under Internal Medicine

Last modified 05/05/2015

Print this page

rate 1 star rate 2 star rate 3 star rate 4 star rate 5 star
Your rating: none, Average: 0 (0 votes)

This article have been viewed 1340 times

67 Thomsen’s disease (myotonia congenita)

Instruction

Look at this patient.

Salient features

History

• Ask the patient whether or not there is any seasonal variation in symptoms: myotonia is worse in winter from the cold.

• Take a family history (inheritance is usually autosomal dominant; gene on long arm of chromosome 7).

Examination

• Diffuse muscle hypertrophy

• Myotonia, which may be apparent while shaking hands with the person. (The myotonia displays a warm up phenomenon, in which the myotonia decreases or vanishes completely when repeating the same movement several times.)

Note: Know the phenotypic patters of muscle disorders.

Diagnosis

Buy Membership for Internal Medicine Category to continue reading. Learn more here

Related posts:

Default ThumbnailSixth cranial nerve palsy Osteoarthrosis Cataracts Ebstein’s anomaly Paget’s disease Erythema nodosum