To elucidate autonomic function in spinal muscular atrophy, we evaluated finger cold-induced vasodilatation, sympathetic skin response, and R—R interval variation in 10 patients with spinal muscular atrophy: 7 of type 1, 2 of type 2, and 1 of type 3. Results of finger cold-induced vasodilatation, sympathetic skin response, and R—R interval variation were compared with those of healthy children. Finger cold-induced vasodilatation was abnormal in 6 of 10patients with spinal muscular atrophy; it was normal in the healthy children. The mean sympathetic skin response latency and amplitude did not differ significantly from those of the healthy children. Amplitudes of sympathetic skin response to sound stimulation were absent or low in all six patients with spinal muscular atrophy. No significant difference was found in the mean R—R interval variation of patients with spinal muscular atrophy and healthy children. Results show that some patients with spinal muscular atrophy have autonomic dysfunction, especially sympathetic nerve hyperactivity, that resembles dysfunction observed in amyotrophic lateral sclerosis. (J Child Neurol 2005;20:871—875).
Shimizu T., Hayashi H., Kato S., et al: Circulatory collapse and sudden death in respirator-dependent amyotrophic lateral sclerosis. J Neurol Sci1994;124:45—55.
3.
Shimizu T., Kato S., Hayashi M., et al: Amyotrophic lateral sclerosis with hypertensive attacks: Blood pressure changes in response to drug administration. Clin Autonom Res1996;6:241—244.
4.
Kawata A., Kato S., Hayashi H., et al: Prominent sensory and autonomic disturbances in familial amyotrophic lateral sclerosis with a Gly93Ser mutation in the SOD1 gene. J Neurol Sci1997;153:82—85.
5.
Shimizu T., Kawata A., Kato S., et al: Autonomic failure in ALS with a novel SOD1 gene mutation. Neurology2000;54:1534—1537.
6.
Ichihara N., Deguchi K., Fujii S., et al: A case of amyotrophic lateral sclerosis presenting with circulatory collapse during artificial respiration. Rinsho Shinkeigaku2000;40:906—910.
7.
Cheliout-Heraut F., Barois A., Urtizberea A., et al: Evoked potentials in spinal muscular atrophy. J Child Neurol2003; 18:383—390.
8.
Hachiya Y., Arai H., Hayashi M., et al: Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival. Brain Dev2005 (in press).
Kunimoto M. : Evaluation of the skin sympathetic function by the decrease of skin temperature at the finger tip immersed into cold water . Rinsho Shinkeigaku1989;29:1004—1008.
11.
Kijima M., Kita K., Hirayama K.: Participation of the sympathetic nervous system in the hunting reaction—Investigation of idiopathic palmoplanter hyperhidrosis. Autonom Nerv Syst1995; 32:39—43.
Sharma KR, Romano JG, Ayyar DR, et al: Sympathetic skin response and heart rate variability in patients with Huntington disease. Arch Neurol1999;56:1248—1252.
16.
Oey PL, Vos PE, Wieneke GH, et al: Subtle involvement of the sympathetic nervous system in amyotrophic lateral sclerosis. Muscle Nerve2002;25:402—408.
17.
Shindo K., Tsunoda S., Shiozawa Z.: Increased sympathetic outflow to muscles in patients with amyotrophic lateral sclerosis: A comparison with other neuromuscular patients. J Neurol Sci1995;134:57—60.
18.
Tamura N., Shimizu K., Oh-iwa K., et al: Increased sympathetic nervous activity in motor neuron disease—A hemodynamic study. Rinsho Shinkeigaku1983 ;23:152—158.
19.
Murata Y., Harada T., Ishizaki F., et al: An abnormal relationship between blood pressure and pulse rate in amyotrophic lateral sclerosis. Acta Neurol Scand1997;96:118—122.
20.
Pisano F., Miscio G., Mazzuero G., et al: Decreased heart rate variability in amyotrophic lateral sclerosis . Muscle Nerve1995; 18:1225—1231.
21.
Beck M., Giess R., Magnus T., et al: Progressive sudomotor dysfunction in amyotrophic lateral sclerosis . J Neurol Neurosurg Psychiatry2002;73:68—70.
22.
Takahashi H. , Oyanagi K., Ikuta F.: The intermediolateral nucleus in sporadic amyotrophic lateral sclerosis. Acta Neuropathol1993;86:190—192.
23.
Piao YS, Wakabayashi K., Kakita A., et al: Neuropathology with clinical correlations of sporadic amyotrophic lateral sclerosis: 102 autopsy cases examined between 1962 and 2000. Brain Pathol2003;12:10—22.
24.
Sung JH, Mastri AR: Spinal autonomic neurons in Werdnig-Hoffmann disease, mannosidosis, and Hurler's syndrome: Distribution of autonomic neurons in the sacral spinal cord. J Neuropathol Exp Neurol1980;39:441—451.
25.
Shishikura K., Hara M., Sasaki Y., et al: A neuropathologic study of Werdnig-Hoffmann disease with special reference to the thalamus and posterior roots. Acta Neuropathol (Berl)1983;60:99—106.
26.
Towfighi J. , Young Rsk, Ward RM: Is Werdnig-Hoffmann disease a pure lower motor neuron disorder?Acta Neuropathol (Berl)1985;65:270—280.
27.
Yotsukura M. , Fujii K., Katayama A., et al: Nine-year follow-up study of heart rate variability in patients with Duchenne-type progressive muscular dystrophy . Am Heart J1998; 136:289-296.
28.
Tsuchida A. , Tsuda N., Kajino M., et al: Heart rate variability in children with Duchenne-type progressive muscular dystrophy by electrocardiographic monitor. J Jpn Paediatr Soc2000;104: 337—340.
29.
Shimizu T.: Development of the aortic baroreflex system under conditions of microgravity. J GravitPhysiol1999;6:55—58.
30.
Kamiya A., Iwase S., Kitazawa H., et al: Baroreflex control of muscle sympathetic nerve activity after 120 days of 6° head-down bed rest. Am J Physiol Regulatory IntegrativeComp Physiol2000;278: R445—R452.
