Very rare syndrome characterized by progressive
amyotrophy, mental retardation, nystagmus, and incontinence of bowel and
bladder in association with spastic paraplegia.
Twelve patients have been
described in the literature. Autosomal dominant.
Because the disease has a variable expression,
the degree of symptoms ranges from an asymptomatic condition to a severe
disease. Features include dystonia, spastic paraplegia, amyotrophy, mental
retardation, bowel incontinence, bladder incontinence, and nystagmus.
Assess airway reflexes and history of
gastroesophageal reflux (recurrent pulmonary aspiration). Because patient
may be prone to frequent chest infections, assess respiratory function,
including chest radiography, arterial blood gas analysis, and pulmonary
function tests, if possible. In presence of severe pulmonary dysfunction,
postoperative mechanical ventilatory support may be necessary and should be
planned accordingly. Mental retardation may complicate communication and
preoperative assessment. May suffer from gastroesophageal reflux
(regurgitation) and poor swallowing (rapid-sequence induction). Care with
positioning of patient with spastic paraplegia. Use of neuromuscular
blocking agents should be done with titration considering muscle atrophy and
under control of nerve stimulator.
Gilman S, Horenstein S: Familial amyotrophic dystonic paraplegia. Brain