Case Report

A 20 year old manual laborer of Araria District of Bihar, presented with history of chronic pain in gluteal and calf muscles since last two and half years. It is gradual in onset and progressive, it aggravates with physical labour. He also had severe morning stiffness of trunk muscles so that he could not get up from bed in early morning easily since last 8 months, also noticed calf muscle hypertrophy of both leg since last 7 month.

No history suggestive of proximal, distal and facial weakness. No history suggestive of sexual dysfunction or baldness. There was no such family history, non consanguineous origin.

On Examination

His General Physical Examination is unremarkable except mild pallor, mild degree clubbing and shows Hercules built. His Cardiac, Respiratory, G.I. System reveals no abnormality.

Neurologically

Higher Mental function, Cranial Nerves, Sensory system are normal. In Motor examination he has gross hypertrophy of both calf, gluteal and deltoid muscles. There is slight hypotonia in all limbs. The power of the above said muscles are weak (4+/5). Reflexes are just elicitable. There were no cerebellar signs, stance and gait is normal. There is percussion myotonia in both deltoid and tongue.

His routine blood picture, biochemistry is normal, CPK is 254. ECG is normal. EMG reveals myotonic discharge in both deltoids without other significant features of myopathy. Muscle biopsy shows hypertrophied muscle fibers.

Conclusion

This is not a classical presentation of Thomsen disease (Myotonia Congenita). This type of clinical presentation will be expected more in Rural Bihar.

Correspondence to

Dr. Bashar Imam Ahmad, Doctors Flat, Block-8, Flat-5, Katihar Medical College, Katihar (Bihar), India E-mail: doctorbasharimam@rediffmail.com Cell No.: +91-9431250943.