Familial progressive bulbar-spinal muscular atrophy: case report with muscle biopsy study

A case of familial progressive bulbar and spinal muscular atrophy was presented. The patient was a 59-year-old male with chief complaints of gait disturbance and nasal voice. His illness started at the age of 39 and very slowly progressed over 20 years. The clinical symptoms and signs were characterized by muscle weakness and atrophy due to lower motor neuron disease in the brain stem below the lower pons and the spinal cord. The electromyograms and muscle biopsy findings are basically neurogenic. In spite of the bulbar signs, the course of the disease is extremely slow. The diagnostic criteria was proposed after reviewing eight other cases reported in the literature.