Diagnostic Conundrum (1)

A 26year old male presened to the RHC with a 6 month h/o

(i) Progressive inability to lift both hands baove shoulder

• (ii) Weakness and wasting of shoulder muscles

He denied any h/o substance abuse, trauma, fevers, convulsions, or exposure.

Clinically: Pulse 78/min, BP 110/70 mm Hg. No lymphadenopathy, icterus or pallor.

CNS: Higher mental functions were within normal limits. There were no cranial nerve anomalies. Spine was normal - no deformity, tenderness or gibbus.

Bilateral symmetrical wasting of shoulder muscles (see photo) with clearly defined bony prominences.

Power at shoulder joint: Shoulder shrug V/V, Abduction O/V, Adduction III/V, Extension III/V, Flexion III/V, Ext Rotation III/V. Unable to lift hand over the head but when he moves his upper limb at a rapid pace he is able to lift his hands over the head.

All other muscle groups power was V/V. Deep tendon jerks unaffected.

There was no sensory deficit.

Investigations: Hb 10 gm%, Total and Differential Counts: WNL, ESR 20 mm 1 st hour, Urine analysis : WNL, HIV (Tridot) - ve.

We could not do CPK due to lack of facilities.

SO WHAT's THE DIAGNOSIS? I put it as FASCIO SCAPULO HUMORAL DYSTROPHY or some other Muscular Dystrophy.

The biggest problem is that this young man is the sole earning member of his family, ekeing out a living on daily wages, and as he can not work, or rather no one is willing to give him work because of his disability, he has been reduced to abject poverty. I am trying to raise funds to send him to Bangalore to at least get a diagnosis. Even with a diagnosis, there is really nothing one can do for him, I suppose and that is the saddest part of it all.