Neuromuscular Abnormalities in Ataxia Telangiectasia: A Clinical, Electrophysiological and Muscle Ultrasound Study

Abstract

Thirteen classical ataxia telangiectasia (A-T) patients, varying in age from 1 to 25 years, were studied clinically, electrophysiologically as well as by muscle ultrasound to chart the development and spectrum of neuromuscular abnormalities in A-T. The most prominent finding was a progressive axonal sensorimotor polyneuropathy, apparent by electromyography and muscle ultrasound from the age of 8 years and becoming clinically discernible around 12 years of age. Before the age of 8 years decreased tendon reflexes and slightly slowed sensory nerve conduction velocities could already be observed. With routine electrophysiological techniques the severe polyneuropathy precludes conclusions about the presence of anterior horn cell loss in older patients.

Key words

ataxia telangiectasia - polyneuropathy - muscle ultrasound - neuromuscular abnormalities

References

• 1 Alfonsi E, Maerlo IM, Monafo V, Lanzi G, Ottolini A, Veggiotti P, Moglia A. Electrophysiological study of central motor pathways in ataxia-telangiectasia.  J Child Neurol. 1997;  12 327-331
• 2 Barbieri F, Santoro L, Crisci C, Massini R, Russo E, Campanella G. Is the sensory neuropathy in ataxia-telangiectasia distinguishable from that in Friedreich's ataxia? Morphometric and ultrastructural study of the sural nerve in a case of Louis Bar syndrome.  Acta Neuropathol. 1986;  69 213-219
• 3 Broeks A, Klein A de, Floore AN, Muijtjens M, Kleijer WJ, Jaspers NG, Veer LJ van't. ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.  Hum Mutat. 1998;  12 330-337
• 4 Dunn HC. Nerve conduction studies in children with Friedrich's ataxia and ataxia-telangiectasia.  Dev Med Child Neurol. 1973;  15 324-337
• 5 Hiel JAP, Engelen BGM van, Weemaes CMR, Broeks A, Verrips A, Laak H ter. et al . Distal spinal muscular atrophy as a major feature in adult onset ataxia telangiectasia.  Neurology. 2006;  67 346-349
• 6 Johnsen B, Fuglsang-Frederiksen A. Electrodiagnosis of polyneuropathy.  Neurophysiol Clin. 2000;  30 339-351
• 7 Kwast O, Ignatowicz R. Progressive peripheral neuron degeneration in ataxia-telangiectasia: an electrophysiological study in children.  Dev Med Child Neurol. 1990;  32 800-807
• 8 Martinez AC, Barrio M, Gutierrez AM, Lopez. Abnormalities in sensory and mixed evoked potentials in ataxia-telangiectasia.  J Neurol Neurosurg Psychiatry. 1977;  40 44-49
• 9 Pillen S, Verrips A, Alfen N van, Arts I, Sie L, Zwarts M. Quantitative skeletal muscle ultrasonography: diagnostic value in childhood neuromuscular disease.  Neuromuscular Disorders. 2007;  17 509-516
• 10 Reimers K, Reimers CD, Wagner S, Paetzke I, Pongratz DE. Skeletal muscle sonography: a correlative study of echogenicity and morphology.  J Ultrasound Med. 1993;  12 73-77
• 11 Scholten RR, Pillen S, Verrips A, Zwarts MJ. Quantitative ultrasonography of skeletal muscles in children: normal values.  Muscle Nerve. 2003;  27 693-698
• 12 Sedgwick RP, Boder E. Ataxia telangiectasia. In: Vinken PJ, Bruyn SW, de Jong JMBV Handbook of clinical neurology. Hereditary neuropathies and spinocerebellar atrophies. New York: Elsevier Science 1991 60: 347-393
• 13 Lavin MF, Lederman HM. Chromosal breakage syndrome associated with immunodeficiency. In: Stiehm ER, Ochs HD, Winkelstein JA Immunologic disorders in infants & children. Philaldelphia: Elsevier Saunders 2004: 580-587
• 14 Swoboda KJ, Edelbol-Eeg-Olofsson K, Harmon RL, Bolton CF, Harper CM, Pitt M, Darras BT, Royden Jones H. Pediatric electromyography. In Neuromuscular disorders of infancy, childhood and adolescence. A clinician's approach. Royden Jones H, DeVivo DC, Darras BT, eds. Philadelphia: Butterworth Heinemann 2003: 59-74
• 15 Wong V, Yu YL, Chan-Lui WY, Woo E, Yeung CY. Ataxia telangiectasia in Chinese children.  Clin Neurol Neurosurg. 1987;  89 137-144

Correspondence