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



· Age of onset (usually between 10 and 40 years of age).

· Family history (parents or siblings may only have facial weakness).

· Weakness begins in the face and subsequently affects the shoulder girdle (par-ticularly the lower trapezii, pectoralis, triceps

and biceps).



· Prominent ptosis.

· Difficulty in closing the eyes.

· Marked facial weakness, resulting in a dull expressionless face with lips open and slack, and inability to whistle or puff the


· Speech is impaired owing to difficulty in articulation of labial consonants.


Wasted sternomastoids and marked weakness of neck muscles.

Shoulder girdle

· Winging of the scapula.

· Lower pectorals and lower trapezii severely affected.

· Weakness of triceps and biceps.

· True hypertrophy of deltoids to compensate for other muscles.

· Absent biceps and triceps jerk.

Uncommon features

Congenital absence of pectoralis, biceps or brachioradialis.

Tibialis anterior may be the only muscle involved outside the shoulder girdle.


This patient has weakness of the muscles of the face, neck and shoulder girdle (lesion) due to inherited facioscapulohumeral

dystrophy (aetiology).


What is the mode of inheritance?

Autosomal dominant; both sexes are equally affected. The gene has been recently localized to the long arm of chromosome 4 (Nat

Genet 1992; 2: 26).

Are higher mental functions affected in this condition?

The IQ is normal in such patients.

What is the lifespan in such a patient?


What is the age of onset of this disorder?

Between 10 and 40 years.

Are levels of muscle enzymes raised in this condition ?

The enzyme levels usually remain normal. About halt' the cases show a very slight increase.

L.T.J. Landouzy (1845-1917), Professor of Therapeutics in Paris; although he is remembered for his description of the syndrome which bears his name, his major research

interest was tuberculosis.

J.J. D6jerine (1849-1917), a French neurologist, was a pioneer in the localization of function in the brain. This syndrome was described in 1885.