This is an uncommon disease of the nervous system occurring in either sex, with symptoms manifesting themselves during the period of most rapid growth. It is rare after the age of thirty. Cavities occur in the spinal cord and produce symptoms. It is believed to be due to an inherited defect in brain development.
The most common and typical features are a loss of some sensations. This is generally the appreciation of heat and pain, most frequently in the upper limbs. It begins insidiously and without any obvious warning. The patient may discover burns on the fingers from a lighted match without noticing it. As the condition deteriorates, the area covered by this sensory loss gradually increases, until it may equal the area covered by the sleeve of a coat. Generally, the patient is aware of subjective sensations. Dull pains may sometimes occur.
About half of the cases also show wasting of the muscles. This usually affects the muscles of the hands and the inner side of the forearms, and generally takes place on both sides concurrently. It may become very noticeable. Resulting from the muscle wasting, contractures may develop and a claw hand deformity occurs. The legs are usually not affected to such an extent, but a slight stiffness or spasticity might occur. Some might show spinal curvature from effects on the thoracic muscles. The bones may become brittle as the calcium tends to be withdrawn from them.
Provided the condition is diagnosed early, the patient may undergo Gardner’s operation, in which the spinal cord is plugged. Good results are reported when this operation is carried out successfully. Unless this is done, the disease progresses slowly. Life is not shortened, but a considerable degree of disability may take place, and may make the life of the patient difficult.