Acta neurol. scandinav. 60, 243-249, 1979
SHORT COMMUNICATION
Division of Neurology, Department of Neuropsychiatry, University of Slo Paul0 School of Medicine, Brazil
Chondrodystrophic myotonia: electromyographic and cardiac features of a case MILBERTO SCAFF,LUCIAI. Z. MENWNGA,JosB ANTQNIO LEVY AND HORACIO M. CANELAS
The Schwartz-Jampel syndrome or chondrodystrophic myotonia is a rare disease characterized by dwarfism, diffuse osteoarticular alterations, blepharospasm, perioral muscular contractions and electromyographic alterations. The authors present a case of chondrodystrophic myotonia focusing mainly on facial electromyographic and cardiac findings. The electromyography olf the orbicularis oculi muscles showed abundant myotonic discharges like other facial muscles as well as muscles of the members. It was not possible to1 obtain true electrical silence between myotonic discharges, suggesting that the blepharospasm is a consequence of persistent muscular contraction. No conclusive evidence of myocardiopathy was given by clinical or laboratory cardiac examinations. General characteristics of the syndrome are discussed as well as the treatment with procamide and phenytoin. Key words: Myotonia - Schwartz-Jampel sydrome
Schwartz-Jampel syndrome constitutes today a well-defined entity characterized by dwarfism, diffuse osteoarticular alterations, typical facies with blepharospasm and contracture of the perioral muscles and electromyographic alterations (Schwarz & Jampel 1962, Aberfeld et al. 1965, Pearson et al. 1967, Mereu et al. 1969, Huftenlocher et al. 1969, Aberfeld et al. 1970, Taylor et al. 1972, Saadat et al. 1972, Cordeiro Ferreira et al. 1973, Fowler Jr. et al. 1974, van Hugellen et al. 1974, Blank et al. 1974, Greze et al. 1975, Cadilhac et al. 1975). The first description was made by Catel in 1951 (Aberfeld et al. 1970). In 1962 Schwarz & Jampel reported the cases of two brothers with the syndrome's general characteristics, placing it however in the differential diagnosis of congenital blepharophimosis. In 1970 Aberfeld et al. reported another two brothers and criticized Schwartz & Jampel's criteria for placing the syndrome among congenital blepharophimosis and named it chondrodystrophic myotonia. We present here a case of chondrodystrophic myotonia focusing on cardiac semiology, electrornyographic aspects with special point of view to the orbicularis oculi muscles, and the tentative treatment with phenytoin and procamide. 0001-6314/79/100243-07 $0.2.50/0 @ 1979 Munksgaard, Copenhagen
244 CASE REPORT A white girl, age 3 years and 6 months, was admitted to the hospital of the University of SLO Paulo in August 1976 with difficulties on deambulation and drop of the upper palpebrae since when she was 14 months old. The weakness aggravated when she passed from the sitting to supine position, and when the lower limbs were contracted, especially the right one. The motor symptoms were transiently reduced by exercise and worsened in winter. The mother reported that a little retardation on motor aoquisitions was observed even though speech acquisition was normal. An orthopedics specialist diagnosed “hip problem” and prescribed orthopedic feet without benefit. She was born after an 8-month-long pregnancy through a Caesarian section. At birth the weight was 2280 g and the length 45 cm. The parents are not consanguineous and this child was the third offspring out of three. The first born died after 14 months of life owing to a lung infection and had a hip problem. The second was a normal 11-year-old boy. The mother weighs 63,600 g and is 164 cm high. The father weighs 70,000 g and is 170 cm high. Height 93 cm (normal value for her age 98 cm). Weight 13,300 g (normal 14,50016,000). Cephalic perimeter 49.5 cm. Thoracic perimeter 56.5 cm. Abdominal perimeter 51 cm. Pulse 124 beatdmin. Blood pressure 90 X 60 mm Hg. Blond and thin hairs, long and irregularly distributed eyelashes. Slightly lower ear implantion. Normal hair line of implantation. High arched palate. Flat nasal bridge, high pitched voice. She does not present pigeon breast or short neck. Her posture is in extension of the lower limbs and internal rotation of the arms, with abduction, pronation and flection of forearms. There is limitation of thigh abduction, especially to the right, and to supination of forearms. She shows generalized muscular hypertrophy with an athletic complexion (Figure 1). The brachial biceps, brachial triceps and thoracic muscles are especially well developed. Bilateral blepharospasm, wrinkling of the forehead, pronounced curvature of the eyebrows, small pursed mouth (Figure 2), small chin,
Figure 1. Herculean complexion.
245
Figure 2. Typical facial expression.
limitation to complete opening of the mouth and an expressionless face are observed. The above peculiarities are enhanced upon crying. No myotonic phenomenon of hands or tongue could be observed. No worsening of contracture is determined by percussion of the thoracic or facial muscles. The deep reflexes are hypoactive in the lower limbs and present in the upper limbs. Generalized hypersudoresis, especially in the face, neck, chest and axilla was noted. Jugular stasis. Pulses well palpable and normal in all limbs. No cyanosis or fingertip alterations. Increased arching of precordial region, without thrills. Palpable ictus in the fourth intercostal space. The first heart sound is normophonetic at the apex. The second heart sound is normophonetic in the accessory aortic area and hyperphonetic and split in the pulmonary area. Blood count, glycemia, urea, sodium, potassium, phosphorus, protein bound iodine, growth hormone, alkaline phosphatase and aldolase were normal, as well as the electroencephalogram. Both glutamic-pyruvic and glutamic-oxalacetic transaminases were slightly elevated, as well as the serum calcium. Plasma protein electrophoresis showed decrease of /3 and y globulins. Immunoelectrophoresis by radioimmunoassay showed decrease of IgA and IgG. The skull X-rays were normal. Long bone X-rays showed diffuse osteoporosis of the metaphyso-epihyseal regions; small arching of the diaphyseal femoral axes with internal concavity. Hip X-rays: coxa vara; osteoporosis of femoral ossification nuclei. Chest X-rays: deformity of the costal arches and rib osteoporosis; infundibuliform thorax; increased pulmonary circulation; right atrium and both ventricles increased in size. Electrocardiogram: sinusal tachycardia; biventricular overload. Vectocardiogram: biventricular overload. Phonocardiogram compatible with hyperkinesia. The echocardiogram was normal. A muscular biopsy (quadriceps) was normal.
246
B
C
D Figure 3. Electromyography of the left orbicularis oculi muscle. The electromyography shows continuous electrical activity and typical myotonic discharges. A and B, rest (calibration: 200 pV/cm and 20 rndcm); C and D , contraction (calibration: 500 p V / c m and 20 rndcm).
The electromyography (Figure 3) showed abundant myotonic discharges with high frequency, with a characteristic dive-bomber sound, occurring spontaneously, following muscle percussion and after needle movimentation, in the quadriceps femoris, tibialis anterior, extensor digitorum brevis, deltoid, abductor digiti minini, extensor digitorum, orbicularis oris and orbicularis oculi muscles. No after-discharge was observed after voluntary movements. It was not possible to obtain true electrical silence between myotonic discharges. The action potentials had a normal amplitude. The interference potential was hard to evaluate due to continuous myotonic discharges throughout the test. Normal motor conduction velocity was observed in the posterior tibia1 and cubital nerves. Treatment with an association of procamide (250 mg/day) and phenytoin (150 mg/day) was started. Control electrocardiograms were performed throughout treatment. The patient benefited from treatment gaining more freedom of movement, being able to run more easily and falling less often. The eyes opened a little. When winter came, a relapse was observed. DISCUSSION The onset of symptoms in chondrodystrophic myotonia takes place in the first year of life. The reported cases occur either in sibs or in sporadic cases, suggesting autosomal recessive heredity. The site of the lesion is still unknown but it is assumed to be in the post-synaptical motor plate. The disease presents well-defined clinical characteristics: skeletal syndrome, muscular syndrome and other typical signs. The skeletal syndrome includes pondo-statural underdevelopment, hip dysplasia, epiphyseal alterations of the long bones, coxa vara, talipes equinovarus, platyspondyly, pigeon breast, small upper thoracic aperture, craniofacial dysmorphism, normal cephalic perimeter but disproportionate to the thoracic perimeter, short neck, high arched palate,
247 micrognathia, dorsal kyphosis, lumbar lordosis, retardation of bony age, limitation of movements of several joints, particularly the proximal ones, and hip abduction (Horan & Berghton 1975). Congenital hip dislocation is frequent. The muscular syndrome comprises blepharospasm, small and pursed mouth with frozen smile, high-pitched voice, rigid gait, resistance to passive motion at all joints, muscular hypertrophy (which can be absent, especially in girls), and hypoactive reflexes. Normal or slightly increased muscle enzymes, muscle biopsy normal or presenting unspecific changes both at the optical and electron microscopy. The electromyographic studies of these patients began with Aberfeld et al. (1970) and showed in the limbs the classic myotonic discharges. The EMG, indeed, shows myotonic discharges and/or persistent electrical activity with constant frequency. Muscle percussion and needle motion can elicit typical myotonic discharges indicating hyperirritability of the muscle. No a€ter-discharge is observed following voluntary motion. Anesthesia, sleep or nerve blockade do not alter the electrical pattern. As opposed to the report of Greze et al. (1975), in the cases of Taylor et al. (1972) and Blank et al. (1974), curare decreased all EMG findings. In the majority of the reported cases, skeletal changes appear before facial anomalies. At the end of the first year some facial peculiarity is noticeable and myotonia is evident by the second year (Schwartz & Jarnpel 1962, Mereu et al. 1969, Pearson et al. 1969, Huttenlocher et al. 1969, Aberfeld et al. 1970, van Huffellen et al. 1974, Fowler Jr. et al. 1974, Gveze et al. 1975). Schartz & Jarnpel (1962) explained the blepharophimosis by a discrepancy between altered muscular and normal skeletal development. This theory can not be accepted because the patients are dwarfs. Aberfeld et al. (1970) concluded that the reduction of the palpebral opening was due to deficient growth of the lateral wall of the orbit, plus microphthalmy and the myotonic phenomenon. Radiological proof in favor of this hypothesis is doubtful. Our patient’s electromyographical studies include limbs, face and especially the orbicularis oculi muscles. No significant differences were apparent between the resting state, active motion, needle insertion and muscle percussion. We can therefore conclude that the peculiar facies and the Herculean complexion of chondrodystrophic myotonia can be attributed to abnormal muscular activity either due to myotonic discharges or to persistent electrical activity. Cardiac semiology and EKG were either normal or disclosed a mild systolic murmur or a left ventricular overload (Schwartz & Jarnpel 1962, Pearson et al. 1967, Huttenlocher et al. 1969, Aberfeld et al. 1970, van Huffelten et al. 1974, Fowler, Jr. et al. 1974). Our patient does not present symptoms or signs of cardiopulmonary failure. Cardiac semiology revealed only hyperphonesis and splitting of the second heart sound in the pulmonary area. EKG, vectocardiogram and X-rays of the cardiac area revealed signs of cardiac chambers overload. However, echocardiography was normal. Phonocardiography with measurement of systolic parameters was compatible with hyperkinesis. There is thus no sure evidence of myocardial involvement. It is possible that the abnormalities observed in the EKG, VKG and X-rays are secondary to the patient’s thoracic conformation. Other signs include long and irregularly distributed lashes, low ear and hair implantation, inguinal or umbilical hernia, rectal prolapse. In infancy, some patients choke when taking liquids, especially cold ones. Immunological findings are still scarce. One patient who had recurrent pneumonia showed selective deficiency of IgA in serum, saliva and stools (Kirschner & Pachman 1976). In our case, besides complaints of frequent infections of the higher respiratory apparatus, lower than normal values of IgA and IgG were found.
248 We still do not know the best treatment for myotonic disturbances or diseases with persistent electrical activity. If we consider that the muscle fiber is hyperirritable in the chondrodystrophic myotonia, as well as in dystrophic myotonia, then a good response to phenytoin and procamide should be observed (Taylor et al. 1972). As the disease is similar in some aspects to neuromyotonia (persistent electrical activity, response to curare) a good response to phenytoin and carbamazepine may be expected (GardnerMedvin & Walton 1969, Taylor et al. 1972). It is not possible, however, to correlate EMG findings t o response to treatment (Huttenlocher et al. 1969, van Huffellen et al. 1974, Fowler , Jr. et al. 1974). In our patient the use of an association of procamide (250 mg/day) and phenytoin (150 mg/day) was beneficial, resulting in increased ability to run and less falls. Nevertheless, treatment was ineffective during winter, when the child once again presented a stiff gait. No cardiac alterations detectable in the EKG were observed during treatment. REFERENCES Aberfeld, D. C., L. P. Hinterbuchner & M. Schneider (1965): Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome). Brain 88, 313-322. Aberfeld, D. C., T. Namba, M. V. Vye & D. Grob (1970): Chondrodystrophic myotonia: report of two cases. Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities. Arch. Neurol. (Chic.) 22, 455-462. Blank, N. K., J. R. Meerschaert & M. J. Rieder (1974): Persistent motor neuron discharges of central origin present in the resting state. Neurol. (Minneap.) 24, 277-281. Cadilhac, J., P. Baldeti, J. Greze & H. Duday (1975): E.M.G. studies of two family cases of the Schwartz and Jampel syndrome. Electromyogr. Clin. Neurophysiol. 15, 5-12. Cordeiro Ferreira, N., M.G. Gomes da Costa & D. Marques (1973): Syndrome de Schwartz. Bordeaux MCd. 6, 1777-1782. Fowler, Jr., W. M., R. B. Layzer, R. G. Taylor, E. D. Eberle, G. E. Sims, T. L. Munsat, M. Pholippart & B. W. Wilson (1974): The Schwartz-Jampel syndrome: its clinical, physiological and histological expressions. J. Neurol. Sci. 22, 127-146. Gardner-Medwin, D. & J. N. Walton (1969): Myokymia with impaired muscular relaxaation. Lancet i, 127-130. Greze, J., P. Baldet, R. Dumas, J. Cadilhac, A. Pages & R. Jean (1975): Dystrophie osteo-chondro-musculaire de Schwartz-Jampel (deux cas familiaux). Arch. frans. PCdiat. 32, 59-75. Horan, F. & P. Berghton (1975): Orthopaedic aspects of the Schwartz syndrome. J. Bone Joint Surg. 57A, 542-544. Huttenlocher, P.R., J. Landwirth, V. Hanson, B.B. Gallagher & K. Bensch (1969): Osteochondromuscular dystrophy: a disorder manifested by multiple skeletal deformities, myotonia and dystrophic changes in muscle. Pediatrics 44, 945-958. Kirschner, B. S. & L. M. Pachman (1976): IgA deficiency and recurrent pneumonia in the Schwartz-Jampel syndrome. J. Pediat. 88, 1060-1061. Mereu, T. R., I. Porter & G. Hug (1969): Myotonia, shortness of stature and hip dysplasia: Schwartz-Jampel syndrome. Am. J. Dis. Child. 117, 470-478. Pearson, C. M., N. C. Kar, J. B. Peter, T. L. Munsat, W. M. Fowler, Jr. & R. F. Coleman (1967): Myotonic dystrophy: its variable clinical, histological and biochemical expression. In: A Barbeau & J. R. Brunette (eds.): Progress in Neuro-Genetics (Proceedings of the 2nd International Congress of Neuro-Genetics and Neuro-Ophthal-
249 mology, vol. l), International Congress Series no. 175, Excerpta MCdica, Amsterdam, pp. 199-218. Saadat, M., H. Mopki, H. Vakiland & M. Ziai (1972): Swartz syndrome: myotonia with blepharophimosis and limitation of joints. J. Pediat. 81, 348-350. Schwartz, 0. & R. S. Jampel (1962): Congenital blepharophimosis associated with an unimque generalized myopathy. Arch. Ophthal. 68, 52-57. Taylor, R. G., R. B. Layzer, H. S. Davis & W. M. Fowler, Jr. (1972): Continuous muscle fiber activity in the Schwartz-Jampel syndrome. Electroenceph. Clin. Neurophysiol. 33, 497-509. Van Huffellen, A. C., F. J. M. Gabreels, 3. S. van Luyden-v.d. Horst, J. L. Sloff, Am. M. Stadhouders & J. J. Korten (1974): Chondrodystrophic myotonia: a report of two unrelated Dutch patients. Neuropadiatrie 5, 71-90.
Received June 8, accepted June 25, 1979
17 Acta neurol. scandinav. 60:4
Milberto Scuff, M.D. Clinica Neurol6gica Hospital das Clinicas Caixa Postal 3461 SBo Paulo, SP Brazil
SHORT COMMUNICATION
Division of Neurology, Department of Neuropsychiatry, University of Slo Paul0 School of Medicine, Brazil
Chondrodystrophic myotonia: electromyographic and cardiac features of a case MILBERTO SCAFF,LUCIAI. Z. MENWNGA,JosB ANTQNIO LEVY AND HORACIO M. CANELAS
The Schwartz-Jampel syndrome or chondrodystrophic myotonia is a rare disease characterized by dwarfism, diffuse osteoarticular alterations, blepharospasm, perioral muscular contractions and electromyographic alterations. The authors present a case of chondrodystrophic myotonia focusing mainly on facial electromyographic and cardiac findings. The electromyography olf the orbicularis oculi muscles showed abundant myotonic discharges like other facial muscles as well as muscles of the members. It was not possible to1 obtain true electrical silence between myotonic discharges, suggesting that the blepharospasm is a consequence of persistent muscular contraction. No conclusive evidence of myocardiopathy was given by clinical or laboratory cardiac examinations. General characteristics of the syndrome are discussed as well as the treatment with procamide and phenytoin. Key words: Myotonia - Schwartz-Jampel sydrome
Schwartz-Jampel syndrome constitutes today a well-defined entity characterized by dwarfism, diffuse osteoarticular alterations, typical facies with blepharospasm and contracture of the perioral muscles and electromyographic alterations (Schwarz & Jampel 1962, Aberfeld et al. 1965, Pearson et al. 1967, Mereu et al. 1969, Huftenlocher et al. 1969, Aberfeld et al. 1970, Taylor et al. 1972, Saadat et al. 1972, Cordeiro Ferreira et al. 1973, Fowler Jr. et al. 1974, van Hugellen et al. 1974, Blank et al. 1974, Greze et al. 1975, Cadilhac et al. 1975). The first description was made by Catel in 1951 (Aberfeld et al. 1970). In 1962 Schwarz & Jampel reported the cases of two brothers with the syndrome's general characteristics, placing it however in the differential diagnosis of congenital blepharophimosis. In 1970 Aberfeld et al. reported another two brothers and criticized Schwartz & Jampel's criteria for placing the syndrome among congenital blepharophimosis and named it chondrodystrophic myotonia. We present here a case of chondrodystrophic myotonia focusing on cardiac semiology, electrornyographic aspects with special point of view to the orbicularis oculi muscles, and the tentative treatment with phenytoin and procamide. 0001-6314/79/100243-07 $0.2.50/0 @ 1979 Munksgaard, Copenhagen
244 CASE REPORT A white girl, age 3 years and 6 months, was admitted to the hospital of the University of SLO Paulo in August 1976 with difficulties on deambulation and drop of the upper palpebrae since when she was 14 months old. The weakness aggravated when she passed from the sitting to supine position, and when the lower limbs were contracted, especially the right one. The motor symptoms were transiently reduced by exercise and worsened in winter. The mother reported that a little retardation on motor aoquisitions was observed even though speech acquisition was normal. An orthopedics specialist diagnosed “hip problem” and prescribed orthopedic feet without benefit. She was born after an 8-month-long pregnancy through a Caesarian section. At birth the weight was 2280 g and the length 45 cm. The parents are not consanguineous and this child was the third offspring out of three. The first born died after 14 months of life owing to a lung infection and had a hip problem. The second was a normal 11-year-old boy. The mother weighs 63,600 g and is 164 cm high. The father weighs 70,000 g and is 170 cm high. Height 93 cm (normal value for her age 98 cm). Weight 13,300 g (normal 14,50016,000). Cephalic perimeter 49.5 cm. Thoracic perimeter 56.5 cm. Abdominal perimeter 51 cm. Pulse 124 beatdmin. Blood pressure 90 X 60 mm Hg. Blond and thin hairs, long and irregularly distributed eyelashes. Slightly lower ear implantion. Normal hair line of implantation. High arched palate. Flat nasal bridge, high pitched voice. She does not present pigeon breast or short neck. Her posture is in extension of the lower limbs and internal rotation of the arms, with abduction, pronation and flection of forearms. There is limitation of thigh abduction, especially to the right, and to supination of forearms. She shows generalized muscular hypertrophy with an athletic complexion (Figure 1). The brachial biceps, brachial triceps and thoracic muscles are especially well developed. Bilateral blepharospasm, wrinkling of the forehead, pronounced curvature of the eyebrows, small pursed mouth (Figure 2), small chin,
Figure 1. Herculean complexion.
245
Figure 2. Typical facial expression.
limitation to complete opening of the mouth and an expressionless face are observed. The above peculiarities are enhanced upon crying. No myotonic phenomenon of hands or tongue could be observed. No worsening of contracture is determined by percussion of the thoracic or facial muscles. The deep reflexes are hypoactive in the lower limbs and present in the upper limbs. Generalized hypersudoresis, especially in the face, neck, chest and axilla was noted. Jugular stasis. Pulses well palpable and normal in all limbs. No cyanosis or fingertip alterations. Increased arching of precordial region, without thrills. Palpable ictus in the fourth intercostal space. The first heart sound is normophonetic at the apex. The second heart sound is normophonetic in the accessory aortic area and hyperphonetic and split in the pulmonary area. Blood count, glycemia, urea, sodium, potassium, phosphorus, protein bound iodine, growth hormone, alkaline phosphatase and aldolase were normal, as well as the electroencephalogram. Both glutamic-pyruvic and glutamic-oxalacetic transaminases were slightly elevated, as well as the serum calcium. Plasma protein electrophoresis showed decrease of /3 and y globulins. Immunoelectrophoresis by radioimmunoassay showed decrease of IgA and IgG. The skull X-rays were normal. Long bone X-rays showed diffuse osteoporosis of the metaphyso-epihyseal regions; small arching of the diaphyseal femoral axes with internal concavity. Hip X-rays: coxa vara; osteoporosis of femoral ossification nuclei. Chest X-rays: deformity of the costal arches and rib osteoporosis; infundibuliform thorax; increased pulmonary circulation; right atrium and both ventricles increased in size. Electrocardiogram: sinusal tachycardia; biventricular overload. Vectocardiogram: biventricular overload. Phonocardiogram compatible with hyperkinesia. The echocardiogram was normal. A muscular biopsy (quadriceps) was normal.
246
B
C
D Figure 3. Electromyography of the left orbicularis oculi muscle. The electromyography shows continuous electrical activity and typical myotonic discharges. A and B, rest (calibration: 200 pV/cm and 20 rndcm); C and D , contraction (calibration: 500 p V / c m and 20 rndcm).
The electromyography (Figure 3) showed abundant myotonic discharges with high frequency, with a characteristic dive-bomber sound, occurring spontaneously, following muscle percussion and after needle movimentation, in the quadriceps femoris, tibialis anterior, extensor digitorum brevis, deltoid, abductor digiti minini, extensor digitorum, orbicularis oris and orbicularis oculi muscles. No after-discharge was observed after voluntary movements. It was not possible to obtain true electrical silence between myotonic discharges. The action potentials had a normal amplitude. The interference potential was hard to evaluate due to continuous myotonic discharges throughout the test. Normal motor conduction velocity was observed in the posterior tibia1 and cubital nerves. Treatment with an association of procamide (250 mg/day) and phenytoin (150 mg/day) was started. Control electrocardiograms were performed throughout treatment. The patient benefited from treatment gaining more freedom of movement, being able to run more easily and falling less often. The eyes opened a little. When winter came, a relapse was observed. DISCUSSION The onset of symptoms in chondrodystrophic myotonia takes place in the first year of life. The reported cases occur either in sibs or in sporadic cases, suggesting autosomal recessive heredity. The site of the lesion is still unknown but it is assumed to be in the post-synaptical motor plate. The disease presents well-defined clinical characteristics: skeletal syndrome, muscular syndrome and other typical signs. The skeletal syndrome includes pondo-statural underdevelopment, hip dysplasia, epiphyseal alterations of the long bones, coxa vara, talipes equinovarus, platyspondyly, pigeon breast, small upper thoracic aperture, craniofacial dysmorphism, normal cephalic perimeter but disproportionate to the thoracic perimeter, short neck, high arched palate,
247 micrognathia, dorsal kyphosis, lumbar lordosis, retardation of bony age, limitation of movements of several joints, particularly the proximal ones, and hip abduction (Horan & Berghton 1975). Congenital hip dislocation is frequent. The muscular syndrome comprises blepharospasm, small and pursed mouth with frozen smile, high-pitched voice, rigid gait, resistance to passive motion at all joints, muscular hypertrophy (which can be absent, especially in girls), and hypoactive reflexes. Normal or slightly increased muscle enzymes, muscle biopsy normal or presenting unspecific changes both at the optical and electron microscopy. The electromyographic studies of these patients began with Aberfeld et al. (1970) and showed in the limbs the classic myotonic discharges. The EMG, indeed, shows myotonic discharges and/or persistent electrical activity with constant frequency. Muscle percussion and needle motion can elicit typical myotonic discharges indicating hyperirritability of the muscle. No a€ter-discharge is observed following voluntary motion. Anesthesia, sleep or nerve blockade do not alter the electrical pattern. As opposed to the report of Greze et al. (1975), in the cases of Taylor et al. (1972) and Blank et al. (1974), curare decreased all EMG findings. In the majority of the reported cases, skeletal changes appear before facial anomalies. At the end of the first year some facial peculiarity is noticeable and myotonia is evident by the second year (Schwartz & Jarnpel 1962, Mereu et al. 1969, Pearson et al. 1969, Huttenlocher et al. 1969, Aberfeld et al. 1970, van Huffellen et al. 1974, Fowler Jr. et al. 1974, Gveze et al. 1975). Schartz & Jarnpel (1962) explained the blepharophimosis by a discrepancy between altered muscular and normal skeletal development. This theory can not be accepted because the patients are dwarfs. Aberfeld et al. (1970) concluded that the reduction of the palpebral opening was due to deficient growth of the lateral wall of the orbit, plus microphthalmy and the myotonic phenomenon. Radiological proof in favor of this hypothesis is doubtful. Our patient’s electromyographical studies include limbs, face and especially the orbicularis oculi muscles. No significant differences were apparent between the resting state, active motion, needle insertion and muscle percussion. We can therefore conclude that the peculiar facies and the Herculean complexion of chondrodystrophic myotonia can be attributed to abnormal muscular activity either due to myotonic discharges or to persistent electrical activity. Cardiac semiology and EKG were either normal or disclosed a mild systolic murmur or a left ventricular overload (Schwartz & Jarnpel 1962, Pearson et al. 1967, Huttenlocher et al. 1969, Aberfeld et al. 1970, van Huffelten et al. 1974, Fowler, Jr. et al. 1974). Our patient does not present symptoms or signs of cardiopulmonary failure. Cardiac semiology revealed only hyperphonesis and splitting of the second heart sound in the pulmonary area. EKG, vectocardiogram and X-rays of the cardiac area revealed signs of cardiac chambers overload. However, echocardiography was normal. Phonocardiography with measurement of systolic parameters was compatible with hyperkinesis. There is thus no sure evidence of myocardial involvement. It is possible that the abnormalities observed in the EKG, VKG and X-rays are secondary to the patient’s thoracic conformation. Other signs include long and irregularly distributed lashes, low ear and hair implantation, inguinal or umbilical hernia, rectal prolapse. In infancy, some patients choke when taking liquids, especially cold ones. Immunological findings are still scarce. One patient who had recurrent pneumonia showed selective deficiency of IgA in serum, saliva and stools (Kirschner & Pachman 1976). In our case, besides complaints of frequent infections of the higher respiratory apparatus, lower than normal values of IgA and IgG were found.
248 We still do not know the best treatment for myotonic disturbances or diseases with persistent electrical activity. If we consider that the muscle fiber is hyperirritable in the chondrodystrophic myotonia, as well as in dystrophic myotonia, then a good response to phenytoin and procamide should be observed (Taylor et al. 1972). As the disease is similar in some aspects to neuromyotonia (persistent electrical activity, response to curare) a good response to phenytoin and carbamazepine may be expected (GardnerMedvin & Walton 1969, Taylor et al. 1972). It is not possible, however, to correlate EMG findings t o response to treatment (Huttenlocher et al. 1969, van Huffellen et al. 1974, Fowler , Jr. et al. 1974). In our patient the use of an association of procamide (250 mg/day) and phenytoin (150 mg/day) was beneficial, resulting in increased ability to run and less falls. Nevertheless, treatment was ineffective during winter, when the child once again presented a stiff gait. No cardiac alterations detectable in the EKG were observed during treatment. REFERENCES Aberfeld, D. C., L. P. Hinterbuchner & M. Schneider (1965): Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome). Brain 88, 313-322. Aberfeld, D. C., T. Namba, M. V. Vye & D. Grob (1970): Chondrodystrophic myotonia: report of two cases. Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities. Arch. Neurol. (Chic.) 22, 455-462. Blank, N. K., J. R. Meerschaert & M. J. Rieder (1974): Persistent motor neuron discharges of central origin present in the resting state. Neurol. (Minneap.) 24, 277-281. Cadilhac, J., P. Baldeti, J. Greze & H. Duday (1975): E.M.G. studies of two family cases of the Schwartz and Jampel syndrome. Electromyogr. Clin. Neurophysiol. 15, 5-12. Cordeiro Ferreira, N., M.G. Gomes da Costa & D. Marques (1973): Syndrome de Schwartz. Bordeaux MCd. 6, 1777-1782. Fowler, Jr., W. M., R. B. Layzer, R. G. Taylor, E. D. Eberle, G. E. Sims, T. L. Munsat, M. Pholippart & B. W. Wilson (1974): The Schwartz-Jampel syndrome: its clinical, physiological and histological expressions. J. Neurol. Sci. 22, 127-146. Gardner-Medwin, D. & J. N. Walton (1969): Myokymia with impaired muscular relaxaation. Lancet i, 127-130. Greze, J., P. Baldet, R. Dumas, J. Cadilhac, A. Pages & R. Jean (1975): Dystrophie osteo-chondro-musculaire de Schwartz-Jampel (deux cas familiaux). Arch. frans. PCdiat. 32, 59-75. Horan, F. & P. Berghton (1975): Orthopaedic aspects of the Schwartz syndrome. J. Bone Joint Surg. 57A, 542-544. Huttenlocher, P.R., J. Landwirth, V. Hanson, B.B. Gallagher & K. Bensch (1969): Osteochondromuscular dystrophy: a disorder manifested by multiple skeletal deformities, myotonia and dystrophic changes in muscle. Pediatrics 44, 945-958. Kirschner, B. S. & L. M. Pachman (1976): IgA deficiency and recurrent pneumonia in the Schwartz-Jampel syndrome. J. Pediat. 88, 1060-1061. Mereu, T. R., I. Porter & G. Hug (1969): Myotonia, shortness of stature and hip dysplasia: Schwartz-Jampel syndrome. Am. J. Dis. Child. 117, 470-478. Pearson, C. M., N. C. Kar, J. B. Peter, T. L. Munsat, W. M. Fowler, Jr. & R. F. Coleman (1967): Myotonic dystrophy: its variable clinical, histological and biochemical expression. In: A Barbeau & J. R. Brunette (eds.): Progress in Neuro-Genetics (Proceedings of the 2nd International Congress of Neuro-Genetics and Neuro-Ophthal-
249 mology, vol. l), International Congress Series no. 175, Excerpta MCdica, Amsterdam, pp. 199-218. Saadat, M., H. Mopki, H. Vakiland & M. Ziai (1972): Swartz syndrome: myotonia with blepharophimosis and limitation of joints. J. Pediat. 81, 348-350. Schwartz, 0. & R. S. Jampel (1962): Congenital blepharophimosis associated with an unimque generalized myopathy. Arch. Ophthal. 68, 52-57. Taylor, R. G., R. B. Layzer, H. S. Davis & W. M. Fowler, Jr. (1972): Continuous muscle fiber activity in the Schwartz-Jampel syndrome. Electroenceph. Clin. Neurophysiol. 33, 497-509. Van Huffellen, A. C., F. J. M. Gabreels, 3. S. van Luyden-v.d. Horst, J. L. Sloff, Am. M. Stadhouders & J. J. Korten (1974): Chondrodystrophic myotonia: a report of two unrelated Dutch patients. Neuropadiatrie 5, 71-90.
Received June 8, accepted June 25, 1979
17 Acta neurol. scandinav. 60:4
Milberto Scuff, M.D. Clinica Neurol6gica Hospital das Clinicas Caixa Postal 3461 SBo Paulo, SP Brazil
