Familial Hemifacial
Spasm
John B. Carter, MD; James R. Patrinely, MD; Joseph Jankovic, MD; John A. McCrary III, MD; Milton Boniuk, MD
\s=b\ Three male patients in successive generations of the same family developed acquired left-sided hemifacial spasm. Magnetic resonance imaging of the proband demonstrated a pontine vertebral artery anomaly near the root of the affected facial nerve. This family and a similar family that was recently presented illustrate several interesting features: (1)
hemifacial spasm, from whatever cause, may be autosomal dominant; (2) the spasms involve the same side of the face in affected individuals within an affected family; and (3) the age of onset in familial cases may be younger than in nonfamilial cases.
(Arch Ophthalmol. 1990;108:249-250)
XJemifacial spasm is
a
dyskinesia of
the face characterized by involun¬
tary episodic twitches of the muscles
innervated by the seventh cranial nerve. It is a nonhereditary, adultonset condition that is usually associ¬ ated with vascular anomalies com¬ pressing the facial nerve root at the
Occasionally, tumors (epicholesteatoma) of the cerebellopontine angle or intrinsic pon¬ entry
zone.
dermoid
or
tine disease at the root exit zone may be responsible for the nerve compres¬ sion. We report herein a rare case of familial hemifacial spasm affecting three members of successive genera¬ tions and possibly demonstrating au¬ tosomal dominant transmission. REPORT OF A CASE
A 58-year-old right-handed attorney pre¬ sented with a 30-year history of left-sided
Accepted for publication October 20, 1989. From the Departments of Ophthalmology, Cullen Eye Institute (Drs Carter, Patrinely, McCrary, and Boniuk) and Neurology (Dr Jankovic), Baylor College of Medicine, Houston, Tex. Dr Carter is now with The Wilmer Ophthalmological Institute, The Johns Hopkins Hospital, Baltimore,
Md.
Reprint requests to 6501 Fannin NC200, Houston, TX 77030 (Dr Patrinely).
facial spasms. During his late 20s he noted the onset of twitching of the left lower eye¬ lid. The twitching gradually spread to in¬ volve the entire left side of his face. The spasms were noted to increase during times of emotional stress and fatigue. The pa¬ tient's major complaints were embarrass¬ ment and difficulty reading. During the 12 years prior to presentation he had been treated with phenytoin and carbamazepine without apparent benefit. The patient's medical history was re¬ markable for a 32-year history of insulindependent diabetes mellitus and a 10-year history of systemic hypertension. There was no history of head trauma or tinnitus. His medications included 50 mg of triamterene with 25 mg of hydrochlorothiazide daily and 15 U of regular insulin and 45 U of isophane insulin suspension daily. The ophthalmologic examination dis¬ closed a best corrected distance visual acu¬ ity of 20/20 OU. With the exception of the left facial muscle spasm and minimal non¬ proliferative diabetic retinopathy, the re¬ mainder of the eye examination, including pupillary and motility evaluations, yielded normal results. Between spasms, the verti¬ cal palpebrai fissures were equal. The neurological examination results were normal except for the left-sided hemi¬ facial spasms that occurred in frequent in¬ voluntary paroxysms, almost without re¬ spite. The muscle contractions involved the entire left side of the patient's face. During the spasms the left eyelids closed tightly, the lateral aspect of the brow elevated, the alar fold elevated, and the angle of the mouth retracted superiorly and laterally. The platysma was not involved. There was no facial weakness or sensory deficit. Audi¬ tory functions were intact.
Serologie studies, including microhemagglutination assay- Treponema pallidum and rapid plasma reagin, yielded normal results. The Westergren erythrocyte sedi¬ mentation rate was 11 mm/h. Magnetic resonance imaging demonstrated a mark¬ edly dominant left vertebral artery in the region of the pontomedullary junction (Fig 1). This vessel could be seen arching across to join the right vertebral artery in the re¬ gion of the lower pons (Fig 2). Six focal points of muscle spasm were mapped out on the patient's face and each site was injected with 5.0 U of botulinum A
Downloaded From: http://archopht.jamanetwork.com/ by a New York University User on 06/10/2015
toxin using a tuberculin syringe and a 30-gauge needle. Following the injections, the patient noted complete resolution of the
spasms. At 2 months' follow-up there were no spasms, although he has noted a laxity of
the angle of his mouth. Eating, drinking, and speech were unimpaired. At 1 year's follow-up the patient noted a moderate re¬ turn of the left hemifacial spasms. The patient's father also suffered from left hemifacial spasms. Our patient recalled his father having such severe left-sided hemifacial spasm during his last years that the left eye was closed constantly. The father committed suicide at the age of 62 years.
The
patient's son, at 30 years of age, had
3-year history of left-sided hemifacial spasms. The son first noted twitching of the left lower lid, which progressed to involve a
the left upper lid as well. He noticed an in¬ crease in the severity and frequency of the
during stress or fatigue. Ophthal¬ mologic and neurologic examination results spasms
otherwise normal. The son did not consent to neuroimaging studies. Treat¬ ment was deferred until warranted by
were
symptoms. No other family members
are
known to be involved. The pedigree of this family is presented in Fig 3. COMMENT
Hemifacial spasm is characterized by involuntary paroxysmal bursts of tonic or clonic movements of the facial muscles innervated by the seventh cra¬ nial nerve.1 Typically it occurs during the adult years, although it has been observed in infancy.2 This disorder is slightly more common in women than in men.3 The spasms usually occur initially in the periocular region before spreading to involve the entire side of the face. Mild facial weakness and hearing dif¬ ficulty may be noticed on the involved sides. Commonly, the spasms are ex¬ acerbated by stress or fatigue. The spasms are not under voluntary con¬ trol and they may continue during sleep. Although the condition is usu¬ ally unilateral, bilateral cases have been reported.4 In the majority of cases the syndrome is sufficiently distinctive
Fig 1. Magnetic resonance imaging of the proband. The horizontal section through the region of the pontomedullary junction demon¬ strates the prominent left vertebral artery (ar¬ rowhead). —
Fig 2. Magnetic resonance imaging of the proband, showing the horizontal section through the lower pons. The dominant left ver¬ tebral artery (arrowhead) sweeps anterior to the caudal pons to join the right vertebral artery (not shown) to form the basilar artery. —
Fig 3.—A pedigree of the proband demonstrat¬ ing a possible autosomal dominant pattern of
that a diagnosis can be made on clini¬ cal grounds alone. The differential di¬ agnosis includes tics, asymmetric blepharospasm, facial myokymia, orificial dystonia (Meige's syndrome), facial synkinesis after Bell's palsy, spastic paretic facial contracture, and focal seizure. Electrophysiologic studies5'8 of pa¬ tients with hemifacial spasm have demonstrated synkinesis among the muscles innervated by the facial nerve. These studies suggest that compres¬ sion of the facial nerve at the root exit zone causes local irritation of the nerve and facilitates the initiation of im¬ pulses in active fibers by impulses traveling over adjacent fibers. While most cases are caused by compression from a vascular anomaly, some are caused by tumors in the cerebellopontine angle,910 by meningitis,4 or by in¬ trinsic pontine disease at the root exit zone. Because of the possibility of tu¬ mor or aneurysm, patients with hemi¬ facial spasm should undergo computed
tomographic or magnetic resonance imaging examinations." Only those
patients who elect neurosurgical inter¬ vention need to undergo cerebral angiography12 The first case of hereditary hemifa¬ cial spasm was recently reported.13
Friedman et al13 described a Polish family in which left-sided hemifacial spasms occurred in five persons within three generations. Their pedigree, like our patient's, suggests autosomal dominant transmission. Two of the patients of Friedman et al underwent computed tomographic scans of the brain that were noncontributory. Spe¬ cific mention of contrast study or mag¬ netic resonance imaging examinations was not made. Two of the patients presented had the onset of hemifacial spasms in their late 20s, which is rel¬ atively young for this disorder. The proband and son of our patient also had the onset of spasms between the second and third decades of life. It is interesting that members of both pre¬ sented families had an earlier onset of disease than is typically seen. Familial patterns have been re¬ ported in some specific cranial nerve
inheritance of hemifacial spasm.
disorders such as trigeminal neural¬ gia. This syndrome is similar to hemi¬ facial spasm in that many cases are caused by vascular compression at the
root exit zone of the affected fifth nerve.14 Familial recurrent Bell's palsy
has also been described.15 Our pedigree involved three male adults in successive generations of the same family who suffered from hemi¬ facial spasm, all on the left side. Al¬ though a definitive medical history of the grandfather is lacking, the younger members experienced onset of twitching of the lower eyelid during the third decade of life. The spasms appeared to progress slowly to involve the entire side of the face. The cause appears to be vascular, although it may be multifactorial and responsive to botulinum A toxin injections. The study was supported in part by an unrestricted grant to the Baylor College of Medicine from Research to Prevent Blindness Inc, New York, NY.
References 1. Schultze F. Linksseitiger Facialiskrumpf infolge eines Aneurysma der Arteria vertebralis
sinistra. Arch Pathol Anat. 1875;65:385-391. 2. Langston JW, Tharp BR. Infantile hemifacial spasm. Arch Neurol. 1976;33:302-303. 3. Ehni G, Woltman HW. Hemifacial spasm. Arch Neurol Psychiatry. 1945;53:205-211. 4. Eckman PB, Kramer RA, Altrocchi PH. Hemifacial spasm. Arch Neurol. 1971;25:81-87. 5. Auger RG. Hemifacial spasm: clinical and electrophysiologic observations. Neurology.
1979;29:1261-1272.
Pathophysiology of hemifacial ephaptic transmission and ectopic excitation. Neurology. 1984;34:418-426. 6. Nielsen VK.
spasm, I:
Pathophysiology of hemifacial spread of the supraorbital nerve reflex. Neurology. 1984;34:427-431. 8. Nielson VK, Janetta PJ. Pathophysiology of 7. Nielsen VK.
spasm, II: lateral
hemifacial spasm, III: effects of facial
nerve
decompression. Neurology. 1984;34:891-897. 9. Gagliardi FM, Vagnozzi R, Caroso R, Delfini R. Epidermoids of the cerebellopontine angle (cpa): usefulness of CT scan. Acta Neurochir (Wien). 1980;54:271-281. 10. Davis WE, Luterman BF, Pulliam MW, Templer JW. Hemifacial spasm caused by cholesteatoma. Am J Otol. 1981;2:272-273. 11. Sprik C, Wirtschafter JD. Hemifacial spasm due to intracranial tumor: an international
Downloaded From: http://archopht.jamanetwork.com/ by a New York University User on 06/10/2015
survey of botulinum toxin
investigators. Ophthalmology. 1988;95:1042-1045. 12. Digre K, Corbett JJ. Hemifacial spasm: differential diagnosis, mechanism, and treatment. In: Jankovic J, Tolosa E, eds. Advances in Neurology: Facial Dyskinesias. New York, NY: Raven Press; 1988;49:467-472. 13. Friedman A, Jamrozik Z, Bojakowski J. Familial hemifacial spasm. Movement Disorders.
1989;4:213-218. 14. Herzberg L. Familial trigeminal neuralgia. Arch Neurol. 1980;37:285-286. 15. Aldrich MS, Beck RW, Albers JW. Familial recurrent Bell's palsy with ocular motor palsies. Neurology. 1987;37:1369-1371.
Spasm
John B. Carter, MD; James R. Patrinely, MD; Joseph Jankovic, MD; John A. McCrary III, MD; Milton Boniuk, MD
\s=b\ Three male patients in successive generations of the same family developed acquired left-sided hemifacial spasm. Magnetic resonance imaging of the proband demonstrated a pontine vertebral artery anomaly near the root of the affected facial nerve. This family and a similar family that was recently presented illustrate several interesting features: (1)
hemifacial spasm, from whatever cause, may be autosomal dominant; (2) the spasms involve the same side of the face in affected individuals within an affected family; and (3) the age of onset in familial cases may be younger than in nonfamilial cases.
(Arch Ophthalmol. 1990;108:249-250)
XJemifacial spasm is
a
dyskinesia of
the face characterized by involun¬
tary episodic twitches of the muscles
innervated by the seventh cranial nerve. It is a nonhereditary, adultonset condition that is usually associ¬ ated with vascular anomalies com¬ pressing the facial nerve root at the
Occasionally, tumors (epicholesteatoma) of the cerebellopontine angle or intrinsic pon¬ entry
zone.
dermoid
or
tine disease at the root exit zone may be responsible for the nerve compres¬ sion. We report herein a rare case of familial hemifacial spasm affecting three members of successive genera¬ tions and possibly demonstrating au¬ tosomal dominant transmission. REPORT OF A CASE
A 58-year-old right-handed attorney pre¬ sented with a 30-year history of left-sided
Accepted for publication October 20, 1989. From the Departments of Ophthalmology, Cullen Eye Institute (Drs Carter, Patrinely, McCrary, and Boniuk) and Neurology (Dr Jankovic), Baylor College of Medicine, Houston, Tex. Dr Carter is now with The Wilmer Ophthalmological Institute, The Johns Hopkins Hospital, Baltimore,
Md.
Reprint requests to 6501 Fannin NC200, Houston, TX 77030 (Dr Patrinely).
facial spasms. During his late 20s he noted the onset of twitching of the left lower eye¬ lid. The twitching gradually spread to in¬ volve the entire left side of his face. The spasms were noted to increase during times of emotional stress and fatigue. The pa¬ tient's major complaints were embarrass¬ ment and difficulty reading. During the 12 years prior to presentation he had been treated with phenytoin and carbamazepine without apparent benefit. The patient's medical history was re¬ markable for a 32-year history of insulindependent diabetes mellitus and a 10-year history of systemic hypertension. There was no history of head trauma or tinnitus. His medications included 50 mg of triamterene with 25 mg of hydrochlorothiazide daily and 15 U of regular insulin and 45 U of isophane insulin suspension daily. The ophthalmologic examination dis¬ closed a best corrected distance visual acu¬ ity of 20/20 OU. With the exception of the left facial muscle spasm and minimal non¬ proliferative diabetic retinopathy, the re¬ mainder of the eye examination, including pupillary and motility evaluations, yielded normal results. Between spasms, the verti¬ cal palpebrai fissures were equal. The neurological examination results were normal except for the left-sided hemi¬ facial spasms that occurred in frequent in¬ voluntary paroxysms, almost without re¬ spite. The muscle contractions involved the entire left side of the patient's face. During the spasms the left eyelids closed tightly, the lateral aspect of the brow elevated, the alar fold elevated, and the angle of the mouth retracted superiorly and laterally. The platysma was not involved. There was no facial weakness or sensory deficit. Audi¬ tory functions were intact.
Serologie studies, including microhemagglutination assay- Treponema pallidum and rapid plasma reagin, yielded normal results. The Westergren erythrocyte sedi¬ mentation rate was 11 mm/h. Magnetic resonance imaging demonstrated a mark¬ edly dominant left vertebral artery in the region of the pontomedullary junction (Fig 1). This vessel could be seen arching across to join the right vertebral artery in the re¬ gion of the lower pons (Fig 2). Six focal points of muscle spasm were mapped out on the patient's face and each site was injected with 5.0 U of botulinum A
Downloaded From: http://archopht.jamanetwork.com/ by a New York University User on 06/10/2015
toxin using a tuberculin syringe and a 30-gauge needle. Following the injections, the patient noted complete resolution of the
spasms. At 2 months' follow-up there were no spasms, although he has noted a laxity of
the angle of his mouth. Eating, drinking, and speech were unimpaired. At 1 year's follow-up the patient noted a moderate re¬ turn of the left hemifacial spasms. The patient's father also suffered from left hemifacial spasms. Our patient recalled his father having such severe left-sided hemifacial spasm during his last years that the left eye was closed constantly. The father committed suicide at the age of 62 years.
The
patient's son, at 30 years of age, had
3-year history of left-sided hemifacial spasms. The son first noted twitching of the left lower lid, which progressed to involve a
the left upper lid as well. He noticed an in¬ crease in the severity and frequency of the
during stress or fatigue. Ophthal¬ mologic and neurologic examination results spasms
otherwise normal. The son did not consent to neuroimaging studies. Treat¬ ment was deferred until warranted by
were
symptoms. No other family members
are
known to be involved. The pedigree of this family is presented in Fig 3. COMMENT
Hemifacial spasm is characterized by involuntary paroxysmal bursts of tonic or clonic movements of the facial muscles innervated by the seventh cra¬ nial nerve.1 Typically it occurs during the adult years, although it has been observed in infancy.2 This disorder is slightly more common in women than in men.3 The spasms usually occur initially in the periocular region before spreading to involve the entire side of the face. Mild facial weakness and hearing dif¬ ficulty may be noticed on the involved sides. Commonly, the spasms are ex¬ acerbated by stress or fatigue. The spasms are not under voluntary con¬ trol and they may continue during sleep. Although the condition is usu¬ ally unilateral, bilateral cases have been reported.4 In the majority of cases the syndrome is sufficiently distinctive
Fig 1. Magnetic resonance imaging of the proband. The horizontal section through the region of the pontomedullary junction demon¬ strates the prominent left vertebral artery (ar¬ rowhead). —
Fig 2. Magnetic resonance imaging of the proband, showing the horizontal section through the lower pons. The dominant left ver¬ tebral artery (arrowhead) sweeps anterior to the caudal pons to join the right vertebral artery (not shown) to form the basilar artery. —
Fig 3.—A pedigree of the proband demonstrat¬ ing a possible autosomal dominant pattern of
that a diagnosis can be made on clini¬ cal grounds alone. The differential di¬ agnosis includes tics, asymmetric blepharospasm, facial myokymia, orificial dystonia (Meige's syndrome), facial synkinesis after Bell's palsy, spastic paretic facial contracture, and focal seizure. Electrophysiologic studies5'8 of pa¬ tients with hemifacial spasm have demonstrated synkinesis among the muscles innervated by the facial nerve. These studies suggest that compres¬ sion of the facial nerve at the root exit zone causes local irritation of the nerve and facilitates the initiation of im¬ pulses in active fibers by impulses traveling over adjacent fibers. While most cases are caused by compression from a vascular anomaly, some are caused by tumors in the cerebellopontine angle,910 by meningitis,4 or by in¬ trinsic pontine disease at the root exit zone. Because of the possibility of tu¬ mor or aneurysm, patients with hemi¬ facial spasm should undergo computed
tomographic or magnetic resonance imaging examinations." Only those
patients who elect neurosurgical inter¬ vention need to undergo cerebral angiography12 The first case of hereditary hemifa¬ cial spasm was recently reported.13
Friedman et al13 described a Polish family in which left-sided hemifacial spasms occurred in five persons within three generations. Their pedigree, like our patient's, suggests autosomal dominant transmission. Two of the patients of Friedman et al underwent computed tomographic scans of the brain that were noncontributory. Spe¬ cific mention of contrast study or mag¬ netic resonance imaging examinations was not made. Two of the patients presented had the onset of hemifacial spasms in their late 20s, which is rel¬ atively young for this disorder. The proband and son of our patient also had the onset of spasms between the second and third decades of life. It is interesting that members of both pre¬ sented families had an earlier onset of disease than is typically seen. Familial patterns have been re¬ ported in some specific cranial nerve
inheritance of hemifacial spasm.
disorders such as trigeminal neural¬ gia. This syndrome is similar to hemi¬ facial spasm in that many cases are caused by vascular compression at the
root exit zone of the affected fifth nerve.14 Familial recurrent Bell's palsy
has also been described.15 Our pedigree involved three male adults in successive generations of the same family who suffered from hemi¬ facial spasm, all on the left side. Al¬ though a definitive medical history of the grandfather is lacking, the younger members experienced onset of twitching of the lower eyelid during the third decade of life. The spasms appeared to progress slowly to involve the entire side of the face. The cause appears to be vascular, although it may be multifactorial and responsive to botulinum A toxin injections. The study was supported in part by an unrestricted grant to the Baylor College of Medicine from Research to Prevent Blindness Inc, New York, NY.
References 1. Schultze F. Linksseitiger Facialiskrumpf infolge eines Aneurysma der Arteria vertebralis
sinistra. Arch Pathol Anat. 1875;65:385-391. 2. Langston JW, Tharp BR. Infantile hemifacial spasm. Arch Neurol. 1976;33:302-303. 3. Ehni G, Woltman HW. Hemifacial spasm. Arch Neurol Psychiatry. 1945;53:205-211. 4. Eckman PB, Kramer RA, Altrocchi PH. Hemifacial spasm. Arch Neurol. 1971;25:81-87. 5. Auger RG. Hemifacial spasm: clinical and electrophysiologic observations. Neurology.
1979;29:1261-1272.
Pathophysiology of hemifacial ephaptic transmission and ectopic excitation. Neurology. 1984;34:418-426. 6. Nielsen VK.
spasm, I:
Pathophysiology of hemifacial spread of the supraorbital nerve reflex. Neurology. 1984;34:427-431. 8. Nielson VK, Janetta PJ. Pathophysiology of 7. Nielsen VK.
spasm, II: lateral
hemifacial spasm, III: effects of facial
nerve
decompression. Neurology. 1984;34:891-897. 9. Gagliardi FM, Vagnozzi R, Caroso R, Delfini R. Epidermoids of the cerebellopontine angle (cpa): usefulness of CT scan. Acta Neurochir (Wien). 1980;54:271-281. 10. Davis WE, Luterman BF, Pulliam MW, Templer JW. Hemifacial spasm caused by cholesteatoma. Am J Otol. 1981;2:272-273. 11. Sprik C, Wirtschafter JD. Hemifacial spasm due to intracranial tumor: an international
Downloaded From: http://archopht.jamanetwork.com/ by a New York University User on 06/10/2015
survey of botulinum toxin
investigators. Ophthalmology. 1988;95:1042-1045. 12. Digre K, Corbett JJ. Hemifacial spasm: differential diagnosis, mechanism, and treatment. In: Jankovic J, Tolosa E, eds. Advances in Neurology: Facial Dyskinesias. New York, NY: Raven Press; 1988;49:467-472. 13. Friedman A, Jamrozik Z, Bojakowski J. Familial hemifacial spasm. Movement Disorders.
1989;4:213-218. 14. Herzberg L. Familial trigeminal neuralgia. Arch Neurol. 1980;37:285-286. 15. Aldrich MS, Beck RW, Albers JW. Familial recurrent Bell's palsy with ocular motor palsies. Neurology. 1987;37:1369-1371.
