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At a glance

It is a very rare syndrome characterized by progressive amyotrophy, mental retardation, nystagmus, and incontinence of bowel and bladder in association with spastic paraplegia.


The incidence remains unknown. Twenty patients have been described in the literature.

Genetic inheritance

It is believed to be inherited as autosomal dominant.

Clinical aspects

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.

Anesthetic considerations

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.

Other condition to be considered

  • Hereditary Spastic Paraplegia with Dementia (HSP): More commonly associated with presenile dementia. All subjects are healthy and performing well in the early years of school. Symptoms of cognitive losses are preceded with the presence of ambulation difficulties. Patients present symptoms before the age of 13 years. All affected individuals are unable to ambulate independently by late teens. Dysarthria and spastic paraplegia is accompanied by dementia.


Gilman  S, Horenstein  S: Familial amyotrophic dystonic paraplegia. Brain 87:51, 1964.  [PubMed: 14152212]
Harding  A: Classification of the hereditary ataxias and paraplegias. Lancet 1:1151–1154. 1993.

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