Thomsen’s disease (myotonia congenita)

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

This patient has diffuse muscular hypertrophy with myotonia (lesion) caused by Thomsen’s disease (aetiology).

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Tags: 250 Cases in Clinical Medicine

Dec 4, 2016 | Posted by admin in GENERAL & FAMILY MEDICINE | Comments Off

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