Facioscapulohumeral dystrophy (Landouzy–Déjérine syndrome)

64 Facioscapulohumeral dystrophy (Landouzy–Déjérine syndrome)



Instruction


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



Salient features



History




• 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 affects the shoulder girdle subsequently (particularly the lower trapezii, pectoralis, triceps and biceps).



Examination




• In the face:


• 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 cheeks

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

• In the neck:


• Wasted sternomastoids and marked weakness of neck muscles.

• In the shoulder girdle (Figs 64.1 and 64.2):


• 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.

• In the trunk:


• Weakness (lower abdominal muscles are weaker than upper abdominal muscles, resulting in the Beevor sign; a physical finding very specific for this condition), which is a marked upward movement of the umbilicus following neck flexion of the patient in a lying position.

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Dec 4, 2016 | Posted by in GENERAL & FAMILY MEDICINE | Comments Off on Facioscapulohumeral dystrophy (Landouzy–Déjérine syndrome)

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