[Abnormal head drooping in facioscapulohumeral muscular dystrophy]

Diagnosis of facioscapulohumeral muscular dystrophy (FSHD) is based on its characteristic pattern of muscle wasting. Initial symptom is usually shoulder girdle and upper arm muscle wasting resulting in difficulty in arm-lifting. Patients are aware of progressive change of facial appearance caused by characteristic facial muscle weakness. Affection of other muscles is usually realized much later, but, there is a considerable variation in pattern and severity between individuals even in the same family so that several clinical subtypes such as jump form or scapuloperoneal syndrome have been proposed. Here we described three patients with FSHD showing conspicuous head-drooping caused by severe wasting of posterior neck muscles. These patients realized abnormal neck posture much earlier than appearance of obvious gait disability, while they show other characteristic FSHD features. Familial occurrence is observed in two cases, other affected members from both families do not show abnormal head drooping. Therefore we regarded this sign as another example of clinical heterogeneity of this genetic disorder.