Hum. Hered. 29: 348-350 (1979)
Hereditary Essential Myoclonus T. Zonda and E. Szabo City Hospital, Balassagyarmat
Key Words. Hereditary myoclonus • Family study
Only in recent years has more attention been paid to the pathologic picture of he reditary essential myoclonus (HEM), de scribed in 1881 by Friedreich [9] as para myoclonus multiplex. To the best of our knowledge, only 12 families have been de scribed in the literature as belonging to this pathological picture.
Earlier Publications Undoubtedly, paramyoclonus multiplex and HEM have repeatedly been mixed up, as the two terms have quite often been used in the literature as synonyms. We agree with Mahloudji and Pikielny [12] that the correct term is ‘hereditary essential myoclonus’ in cases of the disorder to be described here. Among previous publications it is found that the report by Seeligmuller [14] does not allow a diagnosis of HEM; EEG was not
carried out, familial occurrence is not men tioned. Ford’s [8] cases may be HEM, but unfortunately there was no EEG examina tion. The same applies to the cases of Lindemulder [11]. The publication of Elliot [6] is very brief, and there was no EEG. In the cases of Panse and Elsässer [13], positive neurological signs were present (epilepsy, hemiparesis, etc.). In his report, Van Bogaert [16] described 2 sisters with endocrine dysfunction, insufficient psychic state and good response to psychotherapy. In the cases of Littlejohn [10] the EEG was posi tive and there was a good response to anti convulsants; however, the author left the question of the diagnosis open. Reviewing the 10-year material of the Mayo Clinic, Aigner and Mulder [1] found 4 cases similar to HEM, they also made fol low-up studies, but their cases were sporad ic and the manifestation of myoclonies was always preceded by a significant psychic or
Downloaded by: King's College London 137.73.144.138 - 1/16/2019 7:41:29 AM
Abstract. A new family with the rare condition of hereditary essential myoclonus (HEM) and the literature on FIEM are presented. Some of these cases may previously have been reported under the title of Friedreich’s paramyoclonus multiplex. The present family, which is number 13 in the literature and in which 9 members in three generations had this benign disorder, is described. The diagnostic criteria have been tabulated.
Hereditary Essential Myoclonus
349
Table I. Survey of affected members of the present family Case No.
Name
Age years
Age of onset years
Localisation of myoclonus
Other neurological or psychic symptoms
1/1
I. P.
died
7
unknown
II / 2
0 . J.
77
1 0 -1 2
11/4
J. P.
65
10
11/5
L. P.
died
1 0 -1 2
III/I1
M. P.
44
7
111 /1 2
III/14 111/16
L. D. L. P. K. P.
52 43 39
8
III/17
S. P.
28
10
upper arms; halting speech mouth, neck, upper extremities, shoulder neck, shoulder: halting speech upper arms; halting speech laryngeal muscles, shoulder, head, neck, upper arms, erector trunci neck, upper arms neck, upper arms shoulder, upper arms; halting speech shoulder, upper arms
17 1 0 -1 1
mild arteriosclerotic psychic signs none unknown vegetative lability
none none none none
The following examinations were carried out in all individuals (except 1/1 and 11/5) and revealed no ab normalities: EEG, PEG, Wassermann, routine haematological, urine and liver tests, blood sugar, serum electrolytes, carbamide nitrogen, antistreptolysin titer, X-ray photos of skull and thorax. None of the cases presented signs of epilepsy.
Present Material In our family there was no consanguini ty. Prior to the onset of myoclonus, there
was no head injury or other illness. In all our cases the myoclonies increased under emotional effects, decreased during physical work and after alcohol consumption and were not present during sleep. Table I gives a survey of the symptoms and personal data of our cases (affected family members).
Discussion According to the literature and our pres ent knowledge, the criteria of HEM are as follows: (1) Myoclonies appear especially in the muscles of the head, neck, shoulder girdle, upper extremities and, more rarely, in the
Downloaded by: King's College London 137.73.144.138 - 1/16/2019 7:41:29 AM
somatic trauma. The publication by Biemond [4] may safely be classified as HEM; this is the first detailed and thorough study. Reliable papers on this theme come from Felman and Wieser [7], Schaffer and Wieser [15], Becker and Wieser [3] as well as from Daube el al. [5] and Maltloudji and Pikielny [12], After a careful review of family histories and studies published, we agree with Becker and Wieser [2, 3] that same caution is necessary with regard to earlier publications.
Zonda/Szabó
diaphragm (causing halting speech), in the laryngopharyngeal muscles and sometimes in the lower extremities. Their frequency and intensity increase under emotional ef fects; they decrease during heavy physical work and after alcohol consumption and are not present during sleep. (2) The movements manifest themselves in the 1st and 2nd decade. (3) Except for the myoclonies, positive neurological symptoms are absent, EEG is normal, and there is no history of epilepsy. (4) Familial aggregation (irregularly au tosomal-dominant, rarely recessive inherit ance). (5) No signs of progression or mental de terioration. (6) Pathogenesis is unknown at present.
References 1 Aigner, B. R. and Mulder, D. W.: Myoclonus: clinical significance and approach to classifica tion. Archs Neurol. Psychiat., Chicago 2: 600-609 (1960). 2 Becker, P. E.: Humangenetik, vol. V/2, pp. 157-158 (Thieme, Stuttgart 1966). 3 Becker, P. E. und Wieser, S.: Zur Genetik der essentiellen Myoclonie. Humangenetik 1: 14-23 (1964). 4 Biemond, A.: Paramyoclonus multiplex (Fried reich). Clinical and genetic aspects. Folia psy chiat. neurol. neurochir. need. 66: 270-275 (1963). 5 Daube, J. R., et al.: Hereditary essential my oclonus. Archs Neurol., Chicago 15: 587-594 (1966).
6 Elliot, F. A.: Familial myoclonus and congeni tal morbus cordis. Proc. R. Soc. Med. 42: 66-70 (1949). 7 Feldman, H. und Wieser, S.: Klinische Studie zur essentiellen Myoclonie. Arch. Psychiat. NervKrankh. 205: 184-190 (1964). 8 Ford, F. R.: Paramyoclonus multiplex; in Dis eases of the nervous system in infancy, child hood, and adolescence; 3rd ed. (Thomas, Springfield 1952). 9 Friedreich, N.: Neuropathologische Beobach tungen beim Paramyoclonus multiplex. Vir chows Arch. path. Anat. 86: 421-423 (1881). 10 Littlejohn, W. S.: Familial myoclonus. Report of four cases with EEG. Sth. med. J., Bgham. 42: 404-410 (1949). 11 Lindemulder, F. G.: Familial myoclonia occur ring in three successive generations. J. nerv. ment. Dis. 77: 489-492 (1933). 12 Mahloudji, M. M. and Pikielny, R. T.: Heredi tary familial myoclonus. Brain 90: 669-675 (1967). 13 Panse, F. und Elsässer, G.: Zwischenhirn fettsucht mit Myoclonien bei 2 Schwestern. Erb arzt J. 7: 70-74 (1939). 14 Seeligmüller, A.: Ein Fall von Paramyoclonus multiplex (Friedreich). Myoclonia congenita. Dt. med. Wschr. 12: 405-407 (1885). 15 Schaffer, K. P. und Wieser, S.: Neurophysiologische Untersuchungen zur essentiellen Myo clonie. Arch. Psychiat. NervKrankh. 205: 354-366 (1964). 16 Van Bogaert, L.: Essai sur le paramyoclonus multiplex de Friedreich. A propos de l’obser vation de deux sœurs. Encéphale 38: 145-151 (1949).
Dr. Tamas Zonda, City Hospital, H-2660 Balassagyarmat (Hungary)
Downloaded by: King's College London 137.73.144.138 - 1/16/2019 7:41:29 AM
350
Hereditary Essential Myoclonus T. Zonda and E. Szabo City Hospital, Balassagyarmat
Key Words. Hereditary myoclonus • Family study
Only in recent years has more attention been paid to the pathologic picture of he reditary essential myoclonus (HEM), de scribed in 1881 by Friedreich [9] as para myoclonus multiplex. To the best of our knowledge, only 12 families have been de scribed in the literature as belonging to this pathological picture.
Earlier Publications Undoubtedly, paramyoclonus multiplex and HEM have repeatedly been mixed up, as the two terms have quite often been used in the literature as synonyms. We agree with Mahloudji and Pikielny [12] that the correct term is ‘hereditary essential myoclonus’ in cases of the disorder to be described here. Among previous publications it is found that the report by Seeligmuller [14] does not allow a diagnosis of HEM; EEG was not
carried out, familial occurrence is not men tioned. Ford’s [8] cases may be HEM, but unfortunately there was no EEG examina tion. The same applies to the cases of Lindemulder [11]. The publication of Elliot [6] is very brief, and there was no EEG. In the cases of Panse and Elsässer [13], positive neurological signs were present (epilepsy, hemiparesis, etc.). In his report, Van Bogaert [16] described 2 sisters with endocrine dysfunction, insufficient psychic state and good response to psychotherapy. In the cases of Littlejohn [10] the EEG was posi tive and there was a good response to anti convulsants; however, the author left the question of the diagnosis open. Reviewing the 10-year material of the Mayo Clinic, Aigner and Mulder [1] found 4 cases similar to HEM, they also made fol low-up studies, but their cases were sporad ic and the manifestation of myoclonies was always preceded by a significant psychic or
Downloaded by: King's College London 137.73.144.138 - 1/16/2019 7:41:29 AM
Abstract. A new family with the rare condition of hereditary essential myoclonus (HEM) and the literature on FIEM are presented. Some of these cases may previously have been reported under the title of Friedreich’s paramyoclonus multiplex. The present family, which is number 13 in the literature and in which 9 members in three generations had this benign disorder, is described. The diagnostic criteria have been tabulated.
Hereditary Essential Myoclonus
349
Table I. Survey of affected members of the present family Case No.
Name
Age years
Age of onset years
Localisation of myoclonus
Other neurological or psychic symptoms
1/1
I. P.
died
7
unknown
II / 2
0 . J.
77
1 0 -1 2
11/4
J. P.
65
10
11/5
L. P.
died
1 0 -1 2
III/I1
M. P.
44
7
111 /1 2
III/14 111/16
L. D. L. P. K. P.
52 43 39
8
III/17
S. P.
28
10
upper arms; halting speech mouth, neck, upper extremities, shoulder neck, shoulder: halting speech upper arms; halting speech laryngeal muscles, shoulder, head, neck, upper arms, erector trunci neck, upper arms neck, upper arms shoulder, upper arms; halting speech shoulder, upper arms
17 1 0 -1 1
mild arteriosclerotic psychic signs none unknown vegetative lability
none none none none
The following examinations were carried out in all individuals (except 1/1 and 11/5) and revealed no ab normalities: EEG, PEG, Wassermann, routine haematological, urine and liver tests, blood sugar, serum electrolytes, carbamide nitrogen, antistreptolysin titer, X-ray photos of skull and thorax. None of the cases presented signs of epilepsy.
Present Material In our family there was no consanguini ty. Prior to the onset of myoclonus, there
was no head injury or other illness. In all our cases the myoclonies increased under emotional effects, decreased during physical work and after alcohol consumption and were not present during sleep. Table I gives a survey of the symptoms and personal data of our cases (affected family members).
Discussion According to the literature and our pres ent knowledge, the criteria of HEM are as follows: (1) Myoclonies appear especially in the muscles of the head, neck, shoulder girdle, upper extremities and, more rarely, in the
Downloaded by: King's College London 137.73.144.138 - 1/16/2019 7:41:29 AM
somatic trauma. The publication by Biemond [4] may safely be classified as HEM; this is the first detailed and thorough study. Reliable papers on this theme come from Felman and Wieser [7], Schaffer and Wieser [15], Becker and Wieser [3] as well as from Daube el al. [5] and Maltloudji and Pikielny [12], After a careful review of family histories and studies published, we agree with Becker and Wieser [2, 3] that same caution is necessary with regard to earlier publications.
Zonda/Szabó
diaphragm (causing halting speech), in the laryngopharyngeal muscles and sometimes in the lower extremities. Their frequency and intensity increase under emotional ef fects; they decrease during heavy physical work and after alcohol consumption and are not present during sleep. (2) The movements manifest themselves in the 1st and 2nd decade. (3) Except for the myoclonies, positive neurological symptoms are absent, EEG is normal, and there is no history of epilepsy. (4) Familial aggregation (irregularly au tosomal-dominant, rarely recessive inherit ance). (5) No signs of progression or mental de terioration. (6) Pathogenesis is unknown at present.
References 1 Aigner, B. R. and Mulder, D. W.: Myoclonus: clinical significance and approach to classifica tion. Archs Neurol. Psychiat., Chicago 2: 600-609 (1960). 2 Becker, P. E.: Humangenetik, vol. V/2, pp. 157-158 (Thieme, Stuttgart 1966). 3 Becker, P. E. und Wieser, S.: Zur Genetik der essentiellen Myoclonie. Humangenetik 1: 14-23 (1964). 4 Biemond, A.: Paramyoclonus multiplex (Fried reich). Clinical and genetic aspects. Folia psy chiat. neurol. neurochir. need. 66: 270-275 (1963). 5 Daube, J. R., et al.: Hereditary essential my oclonus. Archs Neurol., Chicago 15: 587-594 (1966).
6 Elliot, F. A.: Familial myoclonus and congeni tal morbus cordis. Proc. R. Soc. Med. 42: 66-70 (1949). 7 Feldman, H. und Wieser, S.: Klinische Studie zur essentiellen Myoclonie. Arch. Psychiat. NervKrankh. 205: 184-190 (1964). 8 Ford, F. R.: Paramyoclonus multiplex; in Dis eases of the nervous system in infancy, child hood, and adolescence; 3rd ed. (Thomas, Springfield 1952). 9 Friedreich, N.: Neuropathologische Beobach tungen beim Paramyoclonus multiplex. Vir chows Arch. path. Anat. 86: 421-423 (1881). 10 Littlejohn, W. S.: Familial myoclonus. Report of four cases with EEG. Sth. med. J., Bgham. 42: 404-410 (1949). 11 Lindemulder, F. G.: Familial myoclonia occur ring in three successive generations. J. nerv. ment. Dis. 77: 489-492 (1933). 12 Mahloudji, M. M. and Pikielny, R. T.: Heredi tary familial myoclonus. Brain 90: 669-675 (1967). 13 Panse, F. und Elsässer, G.: Zwischenhirn fettsucht mit Myoclonien bei 2 Schwestern. Erb arzt J. 7: 70-74 (1939). 14 Seeligmüller, A.: Ein Fall von Paramyoclonus multiplex (Friedreich). Myoclonia congenita. Dt. med. Wschr. 12: 405-407 (1885). 15 Schaffer, K. P. und Wieser, S.: Neurophysiologische Untersuchungen zur essentiellen Myo clonie. Arch. Psychiat. NervKrankh. 205: 354-366 (1964). 16 Van Bogaert, L.: Essai sur le paramyoclonus multiplex de Friedreich. A propos de l’obser vation de deux sœurs. Encéphale 38: 145-151 (1949).
Dr. Tamas Zonda, City Hospital, H-2660 Balassagyarmat (Hungary)
Downloaded by: King's College London 137.73.144.138 - 1/16/2019 7:41:29 AM
350
