This is a chronic form of spinal muscular atrophy in children, unlike Werdnig-Hoffmann type it is not acute.
INVESTIGATIONS OF KUGELBER-WEILANDER DISEASE
EMG will show chronic partial denervation associated with spontaneous abnormal activity in the resting muscle.|(KUGELBER-WEILANDER DISEASE)| There is reduction in the number of motor units. These changes should be demonstrated in at least three extremities before a diagnosis of PMA of ALS is made. Motor and sensory conduction studies are normal. Denervation can be seen in histological section of atrophied muscle. There may be slight high value of creatine kinase but CSF will show no change.
No treatment is known which may influence the course of all these diseases. Riluzole may be helpful for slowing the progress in AMLS. But when gammopathy is associated plasma pheresis and immunosuppresion may result in improvement. Death usually results from starvation and pulmonary infection. If there is marked drooling of saliva anticholinergic drugs may be given. Spasticity may be relieved to some extent by Baclofen or Diazepam. Semi-liquid diet will be helpful in cases of chronic bulbar palsy. Physiotherapy may be helpful to prevent contracture. Physical aids, e.g. walking caliper or splints may be helpful. Secondary infection should be controlled by antibiotics.
In rare cases of Chronic bulbar palsy gastrotomy or Cricopharyngomyotomy may be required for nutrition.