Perform a neurological examination of this patient's upper and lower limbs.



· Age of onset (between 10 and 30 years of age).

· Onset may be either in the pelvic or shoulder girdle.

· It may remain confined to the pelvic or shoulder girdle and may be static for years before peripheral weakness and wasting



Upper limbs

· Biceps and brachioradialis are involved late; wrist extensors are first involved when it extends to the wrist.

· Deltoids may show pseudohypertrophy and are spared until late.

Lower limbs

· In the early stages of the disease, hip flexors and glutei are weak.

· There is early wasting of medial quadriceps and tibialis anterior.

· Lateral quadriceps and calves may show hypertrophy.

Note. The face is never affected.


This patient has weakness of the proximal muscles of the arms and legs (lesion) due to limb girdle dystrophy (aetiology).


What is the mode of inheritance?

Autosomal recessive; males and females are equally affected.

What is the age of onset?

Between 10 and 30 years, causing disability 10-20 years after onset.

How is the intelligence affected?

It is unaffected and IQ is normal.

Is the lifespan affected?


What happens to the serum enzymes?

Levels of serum enzymes are slightly affected or normal.

John Walton, Professor of Neurology at Oxford and Newcastle, was made a peer following his retirement and carries the title of Lord

Walton of Detchant. His chief interest was muscular diseases.

Sir Roger Bannister, Master of Pembroke College at Oxford, worked at the National Hospital for Nervous Diseases, Queen Square,

and St Mary's Hospital, London. His main interest was chronic autonomic failure. He was the first person to run the 4-minute mile.