Myopathies - Facioscapulohumeral Dystrophy

 

Thank you for asking to examine Harry who presented with difficulty lifting object above his head.

 

On general inspection, Harry was comfortable with/with not

 

He had a myopathic facies with generalized wasting and weakness of the facial muscles. There was no ptosis. There was no frontotemporal balding.

 

There was evidence of facial weakness (inability to whistle, close eyes tightly, or puff out of the cheeks).

 

On inspection of the arms, there was wasting of the upper limb girdle muscles, and the upper arms. There was winging of the scapulae.

 

Tone was normal/reduced.

 

There was weakness of the upper limb girdle and upper arms.

 

Sensation was normal.

 

There was abdominal muscle weakness with a positive Beevor’s sign suggestion lower abdominal muscles are weaker than upper.

 

In the legs, there was bilateral foot drop. The lower limb girdle muscles are intact.

 

In summary, my findings suggest facioscapulohumeral dystrophy.

 

Differentials include:

• Myotonic dystrophy

• Limb girdle muscular dystrophy

• Polymyositis

• Inclusion body myositis