Ar ticle abstr act-An unusual case of focal facial spasm modified by factors affecting the peripheral facial nerve was investigated in a 32-year-old woman with involuntary contractions at the left mouth and nasal area. Voluntary facial movements were normal. The involuntary spasms ceased with digital pressure over the facial nerve in the left stylomastoid area. A difference between voluntary and these involuntary facial movements occurred both with local anesthetic blockade and with crushing of the facial Focal facial spasm nerve. Blink reflexes demonstrated unilateral left synkinesis, and facial EMG showed clonic discharges and individual motor units that discharged rapidly (200 Hz). Treatment with diphenylhydantoin, carbamazepine, and prednisone was ineffective. Neurolysis of the peripheral facial nerve resulted in temporary relief, whereas biofeedback controlled the spasms. Focal facial spasms may represent a disorder of the facial nucleus influenced by both peripheral and central mechanisms. NEUROLOGY (Cleveland) 1983;33:1092-5

Kenneth L. Nudleman, MD, and Arnold Starr, MD

Involuntary facial movements differ in clinical until she noted the gradual onset of "numbness and tight­ exp ression and etiologies. Lesions of the facial nerve ness" of the skin in the left maxillary area. Within 3 weeks, or nucleus may cause hemifacial spasm, facial syn­ she noted rapid involuntary muscular twitches in the left kinesis, or myokymia. These three disorders are nasal area for a few seconds at a time. In the next few weeks identified by clinical and electrophysiologic criteria. the spasms lasted longer and spread toward the mouth. The contractions were irregular, rapid, and painless. Within 3 In hemifacial spasm, tonic or tonic-clonic facial months, the spasms were present most of her waking hours, muscle contractions may be associated with pos­ but disappeared with sleep. Grimacing or forced smiling terior fossa lesions, 1-1o including scarring, stretching, immediately arrested the spontaneous contractions. Digi­ local pressure, ischemia, arachnoiditis, or irritation tal pressure at the left stylomastoid area immediately of the extra- axial portion of the seventh cranial. stopped the contractions, and the movements did not recur However, in most cases of hemifacial spasm, no as long as pressure was maintained (she used this technique intracranial abnormality is defined.11 Peripheral to stop the spasms in embarrassing situations). The nerve conduction velocities and blink reflex latencies spasms returned within 5 seconds when she removed the are normal, but pathologic synkinesis and abnormal finger. Emotionally stressful situations increased the fre­ EMG recruitment patterns are seen during the quency of the spasms. 12 General physical examination was normal. There was a spasm. In facial myokymia, continuous quivering of subjective, irregular, circular area of decreased sensation in the facial muscles is typically associated with intra­ the left maxillary area measuring approximately 2 cm in 1 14 medullary lesions such as multiple sclerosis s. or diameter. This area gradually diminished in diameter and brainstem tumors,15 but is also seen in poly­ eventually disappeared. Continuous contractions were radiculopathies.16·17 Typical " myokymic" dis­ observed in the left nasal and mouth areas. When slight charges16·18 are present on EMG analysis, and blink digital pressure was applied (by patient or examiner) near reflex latencies may be prolonged.16 I nuoluntary syn­ the left stylomastoid foramen, the involuntary con­ kinesis is attributed to aberrant regeneration after tractions ceased, but the patient could maintain a full range facial nerve injury,l9. 2o with combinations of slowing of voluntary motor facial movements. Forced smiling and of motor nerve conduction velocities, synkinesis, 21 grimaces also temporarily arrested the movements. The remainder of the neurologic examination was normal. abnormal EMG recruitment patterns, and poly­ 22 Routine laboratory tests were normal, including EEG, phasic motor units. ABR, CSF, tomograms of the petrous temporal bone, CAT Facial movement disorders can also arise from of the posterior fossa, and cerebral angiograms with disorders of the basal ganglia (as in tardive dys­ selected views to exclude compression of the facial nerve by kinesia or H untington's chorea) or cerebral cortex, as a small posterior fossa vessel. in focal motor epileptic discharges. In these condi­ Facial motor latencies and blink reflexes were per­ tions electrophysiologic analysis of peripheral nerve, formed with a standard technique.1& The motor latencies short latency brainstem reflexes, and facial muscles were 3.7 msec on the left side and 3.8 msec on the right are normal, although the late components of the (normal <4.0 msec), and the motor amplitudes (2.0 rnV) blink reflex may be abnormal. 23 were symmetric and normal. With the blink reflex, the We recently studied a patient whose disorder was orbicularis oculi early response (Rl) on the left and right sides was 10.2 and 10.3 msec (normal <12.0). lpsilateral clinically and electrophysiologically similar to that of and contralateral late orbicularis oculi (R2) responses were hemifacial spasm but with several unique charac­ also normal (33 and 35 msec when stimulating the left teristics. supraorbital nerve and 34 and 36 msec when stimulating the right supraorbital nerve). Symmetric decremental Case r eport. This thirty-four-year-old woman was well responses of R2 components were seen with repetitive

1092 NEUROLOGY 33 August 1983 Figure. (A) Blink refiex response ~ stimulating the left supraorbital nerve. L Oftlculans ons N ote the synkinesis . "· at the le{t orbicularis ~ oris muscle. (BJ Rhythmic facial R. otOICUlatls ocuto muscle activity from \ , ~ the area of the le{t labialis quadrator superioris. Activity from other channels _J 200nw appears to be 20 msec volume-conducted. There is an ------Righi ortltcularis immediate cessation OC\iW of muscle activity ------.- Loft ()(b;cvtans upon digital ocull pressure of the facial '-'···-, ,,.._ Left rablalos nerve in the region Supenons Ons of the stylomastoid R.lghl lablahs foramen, with a Superloris Oris return of contractions within __J 150us seconds after digital B o.s seconds release. stimuli. A synkinetic response of quadratus labii superioris seventh cranial nerve from the stylomastoid foramen was obtained with left-sided stimulation (figure, A), to the peripheral branches. The distal branches that whereas no such activity was observed with right-sided innervated the maxillary and nasal area were identi­ stimulation. fied by direct nerve stimulation, and then they were With concentric needle electromyography there was no spontaneous activity in facial muscles. Normal motor units crushed; complete motor nerve block was docu­ were present on voluntary activity, and the recruitment mented by a loss of recordable motor response to pattern was normal. During involuntary spasms, groups of direct facial nerve stimulation. Postoperatively, the motor units fired mainly as clonic bursts. The individual spasms were absent, and voluntary facial strength motor units were normal in amplitude, shape, and dura­ was normal except for the lower face. Three weeks tion, and rapid discharges of up to 200 Hz frequency were later, the spasms reappeared, and within 6 weeks the observed during the clonic bursts. The latency intervals activity was just as it bad been originally. The facial between clonic bursts of motor unit activity were up to 400 paralysis slowly recovered only after the spasms msec, and the spontaneous rhythmic clonic EMG activity returned. typically ceased on compression of the styloid area (figure, After two biofeedback sessions, the patient could B). suppress the spasms by "concentrating" and antic­ ipating the movement. At times of emotional stress, Course. Clinical trials of diphenylhydantoin, car­ the spasms occasionally reappeared. The patient bamazepine, and diazepam did not alter the spasms. returned to work and bas had total control of the Oral prednisone (60 mg/day) seemed to reduce the spasms for the past 2 years. There have been no other frequency, but spontaneous activity returned to pre­ changes in her neurologic status. treatment levels in a few days. Infiltration of the facial nerve at the stylomastoid area with 2.0 cc of 1% xylocaine resulted in the grad­ Discussion . The term "focal facial spasm" is an ual loss of voluntary motor facial muscle activity, appropriate description of the facial movements followed by loss of involuntary spasms. The com­ described here. The movements were involuntary, pleteness of the block was not verified by electrical localized to a restricted region near one nasolabial stimulation. By clinical observation, the involuntary fold, and were characterized by intermittent irregu­ spasms returned approximately 15 minutes after the lar contractions. The movements were sensitive to a injection, while there was still paralysis of voluntary number of factors affecting the peripheral facial motion. nerve that distinguished between voluntary and Surgical exploration of the facial nerve trunk and involuntary facial movements. First, digital pressure the major branches revealed no gross abnormalities. applied by either the patient or the examiner over the A left partial parotidectomy was performed, and no seventh cranial nerve at the stylomastoid foramen scars, tumors, or adhesions were found over the left was accompanied by abrupt cessation of the move-

August 1983 NEUROLOGY 33 1093 ,:.,. ments, without interfering with voluntary con­ spasm or focal facial spasm. Although local nerve tractions. Second, paralysis of voluntary facial injury could have initiated the focal facial spasm, it movements occurred with infiltration of a local anes­ would appear more likely that the persistent spon­ thetic into the region of the facial nerve before the taneous contractions in our patient were generated spasms ceased, and the spasms then reappeared centrally in the facial nucleus. before voluntary facial movements were possible. Nerve injuries are associated with secondary chro­ Finally, crushing the facial nerve resulted in the loss matolytic changes in the cells of origin, as,39 and syn­ 40 2 of both voluntary and involuntary movements, but aptic contac.ts on those cell bodies are altered. _. the focal spasms returned several weeks before vol­ These mechanisms might affect neural discharges to untary motion. account in our patient for both the abnormal elec­ The spasms are similar in some respects to hemi­ tromyographic firing patterns and the differential facial spasms, but with some distinguishing features. susceptibility of voluntary and involuntary move­ First, in hemifacial spasm the abnormal muscle con­ ments to either anesthetic blockade or recovery from tractions may be precipitated by voluntary facial crushing of the nerve. It is also evident that excit­ movements such as chewing, smiling, laughing, or ability of facial motor neurons involved in focal facial blinking, 24.25 but in our patient the spasms ceased spasm can be influenced by descending pathways, during voluntary activity. Second, in hemifacial since the focal movements ceased after biofeedback spasm contractions usually begin around the eye in our patient. rather than near the mouth, as occurred in our Treatment of cryptogenic facial movement disor­ patient. Third, abnormal sensations are not a feature ders is unsatisfactory. Anticonvulsant medications of hemifacial spasm,26·27 whereas our patient had and sedatives are ineffective. Surgical decompres­ transient paresthesia in the maxillary area. Fourth, sion of the facial nerve in the posterior fossa is some­ in patients with hemifacial spasm, injection of alco­ times effective, but in the majority of patients no hol into the seventh nerve at the stylomastoid area is specific lesions are defined other than focal accompanied by paralysis, 2s.29 with voluntary motor demyelination as associated with aberrant blood ves­ functions usually returning before the spasms. This sels. Furthermore, it is not known how a compressive sequence was reversed in our patient. lesion of the facial nerve causes facial spasm. Our A number of observations have confirmed that patient responded to biofeedback therapy, which manipulation of the facial nerve intracranially can may be an efficacious noninvasive treatment alter hemifacial spasms. Phenol injections may stop modality for selected patients with facial movement the spasms with only temporary paralysis. 3o Direct disorders. manipulation or touching the intracranial portion of the facial nerve results in the temporary cessation of the spasm,6but to our knowledge transient cessation From the Department of Neurology, University of California (Irvine) Col­ of motor activity has not been reported with superfi­ lege of Medicine, Irvine, CA. cial pressure on the peripheral nerve, as occurred in Accepted for publication December 8, 1982. our patient. More prolonged improvement of the Address correspondence and reprint request. to Dr. Nudleman, Depe.rtment of Neurology, University of California (Irvine) Medical Center, 101 City spasms has also been reported after crushing of the Drive South, Orange, CA 92668. facial nerve at the stylomastoid area,2.S.31 partial lysis of the facial nerve trunk,32 ·33 or sectioning of terminal motor branches of the facial nerve. 24 These findings do not necessarily imply that peripheral nerve mech­ References anisms generate the spasm, but that the abnormal movements can be modified by manipulation of 1. Arnould G, Tridon P, Laxenaire M, Barrucand D. Hemi­ peripheral nerve at different sites. spasme facial et malformation de la charniere oCcipito-ver­ In our case, sensitivity of the involuntary move­ t~b rale. Rev Otoneuroophtalmol 1962;34:1-5. 2. Boudouresques J, Roger J, Vigouroux RA, et al. Manifesta­ ments to peripheral nerve mechanisms was best tions neurologiques multiples (dont un h~mispasme facial) au exemplified by the beneficial effects of focal pressure. cours d'une maladie de Paget avec impression basilaire. Mar­ We tried this maneuver on two patients with classi­ seille Med 1969;106:69-71. cal hemifacial spasm and one patient with facial 3. Fabinyi GG, Adams CB. HemicraniaJ spasm: treatment by posterior fossa surgery. J Neurol Neurosurg Psychiatry myokymia but without effect. 1978;41:829-33. In 1907, Ramsey Hunt postulated that a focally 4. Revilla AG. Differential diagnosis of tumors at the cerebello­ irritative afferent impluse from the facial nerve could pontine recess. Bull Johns Hopkins Hosp 1948;83:187-212. generate spontaneous facial movements.3• Experi­ 5. Gardner WJ, Sava GA. Hemifacial spasm: a reversible mentally injured peripheral nerves can produce a pathophysiologic state. J Neurosurg 1962;19:240-7. 6. Jannetta PJ, Abbasy M, Maroon JC, et al. Etiology and local self-generating abnormality, which may be definitive microsurgical treatmentofhemifacial spasm: oper· associated with an artificial axon syndrome or ative techniques and results in 47 patients. J Neurosurg ephaptic transmission,35•36 but these are typically 1977;47:321-8. limited in distribution.37·38 Spontaneously generated 7. Campbell E, Keedy C. Hemifacial spasm: a note on the etiol­ activity after nerve injury also seems to be short­ ogy in two cases. J Neurosurg 1947;4:342-7. 8. Eckman PB, Kramer RA, Atrocchi PH. Hemifacial spasm. lived39 and may not explain persistent hemifacial Arch Neurol 1971;25:81-7.

1094 NEUROLOGY 33 August 1983 9. Maroon JC, Lunsford LO, Deep ZL. Hemifacial spasm due to Lancet 1932;1:657-62. aneurysmal compression of the facial nerve. Arch Neurol 27. Kumagami H . Neuropathological findings of hemifacial 1978;35:545-6. spasm and trigemin al neuralgia. Arch Otalaryngol 10. Nappi G, Moglia A, Poloni M, Arrigio A. Hemifacial spasm 1974;99:160-4. associated with dolichomegavertebrobasilar anomaly. Eur 28. Patrick HJ. Three cases of facial spas m treated by injection of Neurol 1977;15:94-101. alcohol. J Nerve Ment Dis 1907;36:1-10. 11. Wartenberg R. H emifacial s pasm: a clin ical and 29. Schlouer H. Erfahrungen in der neuralgietu handlung mit pathophysiologic study. New York: Oxford University Press, a1koboleinspritzungen. Verb Kongr Im Med 1907;24:49. 1952. 30. Toremalm NG, Elmqu15t D, Elner A, Merke U. Hemifacial 12. Auier RG. Hemifacial spasm: clinical and electrophysiologi­ spasm: nerve block with phenol under electromyographic cal observations. Neurology (NY} 1979;29:1261-72. control. Acta Otolaryngol (Stockb) 1977;83:341-8. 13. Anderman F, Cosgrove JBR, Lloyd-Smith DL, et al. Facial 31. Cawthorne T Clonic facial spasm. Arch Otolaryngol myokymia in multiple sclerosis. Brain 1961;84:31-44. 1965;81:504-5. 14. Gutmann L, Thompson Jr HG, Martin JD. Transient facial 32. Diamant H, Enfors B, Wiberg A. Facial spasm: with special myokymia: an uncommon manifestation of multiple scle­ reference to the chorda tympani function and operative treat­ rosis. JAMA 1969;209:389-91. ment. Laryngoscope 1967;77:350-8. 15. Espinosa RE, Lambert EH, Klass DW. Facial myokymia 33. Woltman HW, Williama HL, Lambert EH. An attempt to affecting the electroen cephalogram. Mayo Clin Proc relieve hemifacial spasm by neurolysis of the facial nerves. A 1967;42:258-70. reporto f two cases ofhemifacial spasm with reflections on the 16. Daube JR, Keely JJ, Martin RA. Facial myokymia with nature of the spasm, the contracture and ma5s movement. polyradiculopathy. Neurology (NY) 1979;29:662-9. Proc Staff Meet Mayo Clin 1951;26:231-40. 17. Wasserstrom WR, Starr A. Facial myokymia in the Guillain­ 34. Hunt JR. The sensory system of the facial nerve and its Barr~ syndrome. Arch Neurol 1977;34:576-7. symptomology. J Nerv Ment Dis 1907;36:321-50. 18. Hjorth RJ, Willison RG. The electromyogram in facial myo­ 35. Granit R, Leksell L, Skoglend CR. Fiber injection in injured kymia and hemifacia1 spasm. J Neurol Sci 1973;20:117-26. or compressed region of nerve. Brain 1944;67: 125-40. 19. Fowler J r EP. Abnormal movements follow ing injury to the 36. Rasminsky M. Ectopic generation of impulses and cross-talk facial nerve. JAMA 1939;113:1003-8. in spinal nerve roots of "dystrophic" mice. Ann Neurol 20. Howe HA, T ower SS, Duel AB. Facial tic in relationship to 1978;3:351-7. injury of facial nerve: experimental study. Arch Neurol Psy­ 37. Wall PD, Waxman S, Bashaum Al. Ongoing activity in chiatry 1937;38:1190-8. peri pheral nerve injury discharge. Exp Neurol 21. Kimura J , Rodnitzky RL, Okawara S. Electrophysiologic 1974;45:576-89. analysis of aberrant regeneration after facial nerve paralysis. 38. Lieberman AR. The axon reaction. A review of the principal Neurology (Minneap) 1975;25:989-93. features ofperikaryal responses to axon injury. Int Rev Neu­ 22. Bucbthal F. Electromyography in paralysis of the facial robiol 1971;1 4:49-124. nerve. Arch Otolaryniol 1965;81:463-9. 39. Grafstein B. The nerve cell body response to axotomy. Exp 23. &iteban A, Gimenwz-Roland S. Blink refiex in Huntington's Neural 1975;48:32-51. chorea and Parkinson's d isea se. Acta Neurol Scand 40. Sumner BEH. A quantitative analysis of the response of 1975;52: 145-57. presynaptic boutons to postsynaptic motor neuron axotomy. 24. Potter J . The surgic.al treatment of hemifacial spasm. J Exp Neurol 1975;46:605-15. Laryngol Otol 1972;86:889-92. 41. Lynch G, DeadwylerS, Cotman C. Post lesion axonal growth 25. Pulec LJ. Idiopathic hemifacial spasm. Pathogenesis and produces permanent functional connections. Science surgi cal treatment. Ann Oto! Rbi n ol Laryngol 1973;180:1364-6. 1972;81:664-76. 42. Ferguson JH. Hemifacial spasm and the facial nucleus. Ann 26. Harris W, Wright AD. Treatment of clonic facial spasm. Neurol 1978;4:97-103.

Article abstract-There are few descriptions of major neurologic dys­ functions in either the recessive or the dominant form of chondrodysplasia Dominant punctata. In the dominant trait, often called Conradi-Hlinermann disease, a normal life expectancy with normal neurologic development is the usual chonrodysplasia course for those who survive the first few weeks of life. We studied an punctata with affected infant with a severe spinal cord abnormality that was present at birth and has not been reported in either recessive or dominant neurologic symptoms chondrodysplasia punctata. NEUROLOGY (Cleveland) 1983;33:1095-7

Richard G. Curless, MD

H ereditary c bondrodysplasia punctata form is generally much milder than the recessive, or includes macrocephaly with a flat facies and "rhizomelic" form, which usually leads to death depressed nasal bridge, ichthyosis, and clinical or before age 2 from repeated infections or respiratc?ry radiologic evidence of rhiwmelia (proximal shorten­ failure.2,3 Occasional late survivors of the recessive ing of the limbs).1 Additional radiographic features form have severe mental retardation and spasticity. include deformities of the vertebral bodies and punc­ We studied an infant with the clinical characteristics tate calcifications of the distal long bones, vertebrae, of Conradi-Hunermann syndrome and congenital and pubis. The dominant, or Conradi-Hunennann, flaccid paraparesis.

August 1983 NEUROLOGY 33 1095