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Faraz Mughal, general practitioner speciality trainee year pr in healthcare offers great jobs 31, Ahmed Rashid, National Institute for Health Research academic clinical fellow2, Rajnish C Mishra, general practitioner11Dove Medical Practice, Birmingham B23 5DD, UK2Department of Public Health and Primary Care, University of Cambridge, Cambridge, UKCorrespondence to: F Mughal farazmatdoctors.org.ukA 34 year old white man presented to his general practitioner with a one year history of progressive bilateral hand pain. There was no trauma history or previous arthropathy. He consumed 84 units of alcohol a week, lived alone, and had lost his job as a plasterer owing to reduced hand function. He had three children. On initial examination of the hands and wrists, he had no swelling or bony tenderness and he had normal power, reflexes, and sensation of the upper limbs. Pain was elicited when he unclenched his fists.



Vitamin supplements were prescribed, he was referred to the alcohol team, and a fit note was issued with review planned after a full set of blood tests. Full blood count, renal profile, bone profile, thyroid function, erythrocyte sedimentation rate, and C reactive protein were within normal ranges. Serum alanine aminotransferase was raised (59 U/L; reference range 0-40) and rheumatoid factor was negative.

At follow-up review, bilateral ptosis, frontal balding, and myopathic facies were noted. Bilateral percussion myotonia and distal wasting of the hand muscles were also found on examination. Finger extension was restricted and slowed bilaterally. Cranial nerve examination was otherwise normal, as was cardiorespiratory examination.

Questions1. What do these clinical findings suggest?

2. On the basis of these clinical findings, what further investigations are indicated in general practice?

3. Should this patient be referred for specialist input?

4. How should the patient be counselled after confirmation of the diagnosis?

Answers1. What do these clinical findings suggest?Short answerThese clinical findings suggest a diagnosis of muscular dystrophy, probably myotonic dystrophy.

DiscussionMyotonic dystrophy is characterised by progressive myopathy, myotonia, and systemic involvement. Myotonic dystrophy type 1 (DM1), known as Steinerts disease, is the most common type of muscular dystrophy in adults, with a European prevalence of 3-15 per 100000. Myotonic dystrophy type 2 (DM2), known as proximal myotonic