2015 年 28 巻 3 号 p. 139-141
Purpose: Hereditary motor and sensory neuropathy with proximal predominance (HMSN-P) presents with progressive weakness and atrophy of the proximal limbs and truncal muscles, although the literature has reported marked sparing of the bulbar muscles, distinguishing this pathology from amyotrophic lateral sclerosis (ALS). We sought to clarify whether involvement of the bulbar muscles is present in advanced cases of HMSN-P.
Method: We conducted thorough clinical electrophysiological and ultrasonographic examinations in four patients with advanced HMSN-P. We evaluated the presence of fasciculation of the tongue on ultrasonography and fibrillation/positive sharp waves on needle electromyography.
Result: Mean age and disease duration were 69 years and 29 years, respectively. All patients showed near-complete paralysis of all four extremities. Three patients required mechanical ventilation. All four patients revealed tongue atrophy. Although none showed fasciculation of the tongue on visual examination or needle electromyography, ultrasonography detected fasciculation in two patients. Conversely, the two patients without fasciculation showed signs of active denervation on needle electromyography.
Conclusion: This study found evidence of cranial nerve involvement in patients with advanced HMSN-P, but the extent of involvement was much milder than that in ALS. In our patient series, the rate of detecting denervation of the lingual muscles improved with complementary use of both electromyography and ultrasonography.