EMG and nerve conduction studies in children with congenital muscular dystrophy
Susana Quijano-Roy MD
Unité de Neurophysiologie, Hôpital d'Enfants Armand-Trousseau, 28 avenue Arnold Netter, 75571 Paris, France
Service de Pédiatrie, Hôpital Raymond-Poincaré, Garches, France
Search for more papers by this authorCorresponding Author
Francis Renault MD
Unité de Neurophysiologie, Hôpital d'Enfants Armand-Trousseau, 28 avenue Arnold Netter, 75571 Paris, France
Unité de Neurophysiologie, Hôpital d'Enfants Armand-Trousseau, 28 avenue Arnold Netter, 75571 Paris, FranceSearch for more papers by this authorNorma Romero MD
INSERM U-582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France
Search for more papers by this authorPascale Guicheney PhD
INSERM U-582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France
Search for more papers by this authorMichel Fardeau MD
INSERM U-582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France
Search for more papers by this authorBrigitte Estournet MD
Service de Pédiatrie, Hôpital Raymond-Poincaré, Garches, France
Search for more papers by this authorSusana Quijano-Roy MD
Unité de Neurophysiologie, Hôpital d'Enfants Armand-Trousseau, 28 avenue Arnold Netter, 75571 Paris, France
Service de Pédiatrie, Hôpital Raymond-Poincaré, Garches, France
Search for more papers by this authorCorresponding Author
Francis Renault MD
Unité de Neurophysiologie, Hôpital d'Enfants Armand-Trousseau, 28 avenue Arnold Netter, 75571 Paris, France
Unité de Neurophysiologie, Hôpital d'Enfants Armand-Trousseau, 28 avenue Arnold Netter, 75571 Paris, FranceSearch for more papers by this authorNorma Romero MD
INSERM U-582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France
Search for more papers by this authorPascale Guicheney PhD
INSERM U-582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France
Search for more papers by this authorMichel Fardeau MD
INSERM U-582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France
Search for more papers by this authorBrigitte Estournet MD
Service de Pédiatrie, Hôpital Raymond-Poincaré, Garches, France
Search for more papers by this authorAbstract
Motor and sensory nerve conduction velocities (NCVs) and needle electromyography (EMG) results were reviewed in 26 children with different types of congenital muscular dystrophy (CMD), including patients with mutations in the genes LAMA2, FKRP, and COL6A2. In every patient, at least one EMG examination detected myopathic changes that were predominant in proximal muscles, although EMG performed at birth was normal in two patients. Brief bursts of high-frequency repetitive discharges were electrically elicited in four patients. Uniformly slowed motor NCVs without signs of denervation were observed in seven patients: five merosin-deficient, one merosin-positive, and one with unavailable merosin status. The merosin-deficient neuropathy also involved sensory nerves in three patients and worsened with age in two. In conclusion, myopathic EMG changes were typical and early findings in all types of CMD. An associated neuropathy was detected in most patients with merosin-deficient CMD, and also in a child with normal merosin expression. Muscle Nerve 29: 292–299, 2004
REFERENCES
- 1 Belpaire-Dethiou MC, Saito K, Fukuyama Y, Kondo-Iida E, Toda T, Duprez T, Verellen-Dumoulin C, Van den Bergh PYK. Congenital muscular dystrophy with central and peripheral nervous system involvement in a Belgian patient. Neuromuscul Disord 1999; 9: 251–256.
- 2 Bodensteiner JB. Congenital myopathies. Muscle Nerve 1994; 17: 131–144.
- 3 Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 2001; 69: 1198–1209.
- 4 Buchthal F. Electrophysiological signs of myopathy as related to muscle biopsy. Acta Neurol Scand 1977; 32: 1–29.
- 5 Camacho Vanegas OC, Bertini E, Zhang R, Petrini S, Minosse C, Sabatelli P, Giusti B, Chu M, Pepe G. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci USA 2001; 98: 7516–7521.
- 6 David WS, Jones HR. Electromyography and biopsy correlation with suggested protocol for evaluation of the floppy infant. Muscle Nerve 1994; 17: 424–430.
- 7 Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet 2002; 70: 1446–1458.
- 8 Di Muzio A, De Angelis MV, Di Fulvio P, Ratti A, Pizzutti A, Stuppia L, Gambi D, Uncini A. Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy. Muscle Nerve 2003; 27: 500–506.
- 9 Dubowitz V, Fardeau M. Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy. 22–24 April 1994, The Netherlands. Neuromuscul Disord 1995; 5: 253–258.
- 10 Fardeau M. Skeletal muscle pathology. In: FL Mastaglia, J Walton, editors. Congenital myopathies. Edinburgh: Churchill Livingstone; 1992. p 237–281.
- 11 Fardeau M, Tomé FMS. Congenital myopathies. In: AG Engel, C Franzini-Armstrong, editors. Myology. New York: McGraw-Hill; 1994. p 1487–1532.
- 12 Floriach-Robert M, Cabello A, Simon De Las Heras R, Mateos Beato F. Neonatal hypotonia of muscular origin: analysis of 50 cases. Neurologia 2001; 16: 245–253.
- 13 Harper CM. Congenital myopathies and muscular dystrophies. In: WF Brown, CF Bolton, MJ Aminoff, editors. Neuromuscular function and disease. Philadelphia: WB Saunders; 2002. p 1355–1374.
- 14 He Y, Jones KJ, Vignier N, Morgan G, Chevallay M, Barois A, Estournet-Mathiaud B, Hori H, Mizuta T, Tomé FMS, North KN, Guicheney P. Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. Neurology 2001; 57: 1319–1322.
- 15 Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, Tome FM, Schwartz K, Fardeau M, Tryggvason K. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 1995; 11: 216–218.
- 16 Jones HR. EMG evaluation of the floppy infant: differential diagnosis and technical aspects. Muscle Nerve 1990; 13: 338–347.
- 17 Jones HR, Bolton CF, Harper CM. Pediatric clinical electromyography. Philadelphia: Lippincott-Raven; 1996. 487 p.
- 18 Jones KJ, Morgan G, Johnston H, Tobias V, Ouvrier RA, Wilkinson I, North KN. The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review. J Med Genet 2001; 38: 649–657.
- 19 Leivo I, Engvall E. Merosin, a protein specific for basement membranes of Schwann cells, striated muscle, and trophoblast, is expressed late in nerve and muscle development. Proc Natl Acad Sci USA 1988; 85: 1544–1548.
- 20 Leyten QH, Barth PG, Gabreels FJ, Renkawek K, Renier WO, Gabreels-Festen AA, Ter Laak HJ, Smits MG. Congenital muscular dystrophy and severe central nervous system atrophy in two siblings. Acta Neuropathol 1995; 90: 650–656.
- 21 Matsumura K, Yamada H, Saito F, Sunada Y, Shimizu T. Peripheral nerve involvement in merosin-deficient congenital muscular dystrophy and dy mouse. Neuromuscul Disord 1997; 7: 7–12.
- 22 Mercuri E, Muntoni F. Congenital muscular dystrophies. In: AEH Emery, editor. The muscular dystrophies. Oxford: Oxford University Press; 2001. p 10–52.
- 23 Mercuri E, Pennock J, Goodwin F, Sewry C, Cowan F, Dubowitz L, Dubowitz V, Muntoni F. Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient congenital muscular dystrophy. Neuromuscul Disord 1996; 6: 425–429.
- 24 Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Quijano-Roy S, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H, Guicheney P. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet 2001; 29: 17–18.
- 25 Mora M, Moroni I, Uziel G, Di Blasi C, Barresi R, Farina L, Morandi L. Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities. Neuromuscul Disord 1996; 6: 377–381.
- 26 Morandi L, Di Blasi C, Farina L, Sorokin L, Uziel G, Azan G, Pini A, Toscano A, Lanfossi M, Galbiati S, Cornelio F, Mora M. Clinical correlations in 16 patients with total or partial laminin alpha2 deficiency characterized using antibodies against 2 fragments of the protein. Arch Neurol 1999; 56: 209–215.
- 27 Muntoni F, Bertini E, Bonnemann C, Brockington M, Brown S, Bushby K, Fiszman M, Korner C, Mercuri E, Merlini L, Hewitt J, Quijano-Roy S, Romero N, Squarzoni S, Sewry CA, Straub V, Topaloglu H, Haliloglu G, Voit T, Wewer U, Guicheney P. 98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26–28 October, 2001, Naarden, The Netherlands. Neuromuscul Disord 2002; 12: 889–896.
- 28 Muntoni F, Guicheney P. 85th ENMC International Workshop on Congenital Muscular Dystrophy. 6th International CMD Workshop. 1st Workshop of the Myo-Cluster Project ‘GENRE’. 27–28 October 2000, Naarden, The Netherlands. Neuromuscul Disord 2002; 12: 69–78.
- 29 Nakagawa M, Miyagoe-Suzuki Y, Ikezoe K, Miyata Y, Nonaka I, Harii K, Takeda S. Schwann cell myelination occured without basal lamina formation in laminin alpha2 chain-null mutant. Glia 2001; 35: 101–110.
- 30 O'Brien DP, Johnson GC, Liu LA, Engvall E, Powell HC, Diane Shelton G. Laminin alpha2 (merosin)-deficient muscular dystrophy and demyelinating neuropathy in two cats. J Neurol Sci 2001; 189: 37–43.
- 31 Packer RJ, Brown MJ, Berman PH. The diagnostic value of electromyography in infantile hypotonia. Am J Dis Child 1982; 136: 1057–1059.
- 32 Quijano-Roy S, Galan L, Ferreiro A, Cheliout-Heraut F, Gray F, Fardeau M, Barois A, Guicheney P, Romero NB, Estournet B. Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency. Neuromuscul Disord 2002; 12: 466–475.
- 33 Rabben OK. Sensory nerve conduction studies in children. Age-related changes of conduction velocities. Neuropediatrics 1995; 26: 26–32.
- 34 Raimbault J. Les conductions nerveuses chez l'enfant normal. Paris: Expansion Scientifique Française; 1988. 132 p.
- 35 Rasminsky M, Kearney RE, Aguayo AJ, Bray GM. Conduction of nervous impulses in spinal roots and peripheral nerves of dystrophic mice. Brain Res 1978; 143: 71–85.
- 36 Renault F. Phrenic nerve-diaphragm study in children using surface and esophageal recording electrodes. Muscle Nerve 1999; 22: 1318.
- 37 Renault F, Persenaire B, Harpey JP. Diagnostic des hypotonies néonatales: apport de l'EMG fait avant le 30ème jour de vie. In: M Arthuis, F Beaufils, B Caille, editors. Journées parisiennes de pédiatrie. Paris: Flammarion Médecine-Sciences; 1994. p 285–291.
- 38 Russell JW, Afifi AK, Ross MA. Predictive value of electromyography in diagnosis and prognosis of the hypotonic infant. J Child Neurol 1992; 7: 387–391.
- 39 Salih MA, Al Rayess M, Cutshall S, Urtizberea JA, Al-Turaiki MH, Ozo CO, Straub V, Akbar M, Abid M, Andeejani A, Campbell KP. A novel form of familial congenital muscular dystrophy in two adolescents. Neuropediatrics 1998; 29: 289–293.
- 40 Shorer Z, Philpot J, Muntoni F, Sewry C, Dubowitz V. Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy. J Child Neurol 1995; 10: 472–475.
- 41 Sunada Y, Bernier SM, Kozak CA, Yamada Y, Campbell K. Deficiency of merosin in dystrophic dy mice and genetic linkage of laminin M chain gene to dy locus. J Biol Chem 1994; 269: 1–4.
- 42 Tomé FMS. The saga of congenital muscular dystrophy. Neuropediatrics 1999; 30: 55–65.
- 43 Xu H, Wu X, Wewer UM, Engvall E. Murine muscular dystrophy caused by a mutation in the laminin alpha2 (Lama2) gene. Nat Genet 1994; 8: 297–302.
Citing Literature
