Autosomal recessive axonal neuropathy with neuromyotonia: A rare entity

Pediatric Neurology

Volumn 50, Issue 1, 2014, Pages 104-107

  Caetano, Joana Serra ^a   Costa, Carmen ^b   Baets, Jonathan ^b,c,d   Zimon Phd, Madgalena ^b,c   Venâncio Phd, Margarida ^a,e   Saraiva Phd, Jorge ^a,e   Negrão, Luís ^a   Fineza, Isabel ^a  

^a CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^e UNIVERSITY OF COIMBRA   (Portugal)

Author keywords

axonal neuropathy; HINT1; myotonia; neuromyotonia; neuropathy

Indexed keywords

CARBAMAZEPINE;

ADOLESCENT; ARTHRODESIS; ARTICLE; AUTOSOMAL RECESSIVE AXONAL NEUROPATHY; CASE REPORT; CONSANGUINITY; CONTRACTURE; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; DISTAL PARESTHESIA; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; ETHNICITY; FEMALE; GENE MUTATION; HOMOZYGOTE; HUMAN; LEARNING DISORDER; MOTOR NEUROPATHY; MOTOR UNIT POTENTIAL; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE CONTRACTION; MUSCLE RELAXATION; MUSCLE STRENGTH; MUSCLE WEAKNESS; MYOKYMIA; MYOTONIA; NERVE CONDUCTION; PATHOGENICITY; PERIPHERAL NEUROPATHY; PERONEUS NERVE PARALYSIS; PHYSICAL EXAMINATION; PORTUGAL; PRIORITY JOURNAL; QUADRIPLEGIA; TENOTOMY; COMPLICATION; MALE; RECESSIVE GENE;

ADOLESCENT; CONSANGUINITY; GENES, RECESSIVE; HUMANS; ISAACS SYNDROME; MALE; PERIPHERAL NERVOUS SYSTEM DISEASES;

EID: 84891593253     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2013.08.028     Document Type: Article

References (16)

1. R. Ouvrier, N.G. Singha, and M. Ryan Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood Muscle Nerve 36 2007 131 143
2. A.S.D. Saporta, S.L. Sottile, and L.J. Miller et al. Charcot Marie Tooth (CMT) subtypes and genetic testing strategies Ann Neurol 69 2011 22 33
3. R.A. Ouvrier, and J. Wilmshurst Overview of the neuropathies H.R. Jones, D.C. De Vivo, B.T. Darras, Neuromuscular Disorders of Infancy, Childhood and Adolescence 2003 Butterworth Heinemann Boston, MA
4. H. Skre Genetic and clinical aspects of Charcot-Marie-Tooth's disease Clin Genet 6 1974 98 118
5. T.D. Bird Charcot-Marie-Tooth hereditary neuropathy overview R.A. Pagon, T.D. Bird, C.R. Dolan, GeneReviews [Internet] 1993 University of Washington, Seattle Seattle, WA 1998 Sep 28 [updated 2013 Jul 11]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1358/Accessed March 23, 2013
6. J. Burns, R. Ouvrier, and T. Estilow et al. Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability Ann Neurol 71 2012 642 652
7. M. Shy Inherited peripheral neuropathies Continuum Lifelong Learning Neurol 17 2011 294 315
8. G.T. Carter, J.D. England, and P.F. Chance Charcot-Marie-Tooth disease: electrophysiology, molecular genetics and clinical management IDrugs 7 2004 151 159
9. D. Pareyson, V. Scaioli, and M. Laura Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease Neuromolecular Med 8 2006 3 22
10. D. Pareyson, and C. Marchesi Diagnosis, natural history, and management of Charcot-Marie-Tooth disease Lancet Neurol 8 2009 654 667
11. D. Pareyson, and C. Marchesi Natural history and treatment of peripheral inherited neuropathies Adv Exp Med Biol 652 2009 207 224
12. M.M. Reilly, and M.E. Shy Diagnosis and new treatments in genetic neuropathies J Neurol Neurosurg Psychiatry 80 2009 1304 1314
13. A.N. Poncelet An algorithm for the evaluation of peripheral neuropathy Am Fam Physician 57 1998 755 764
14. M. Zimoń, J. Baets, and L. Almeida-Souza et al. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia Nat Genet 44 2012 1080 1083
15. P. Maddison Neuromyotonia Pract Neurol 2 2002 225 229
16. A.F. Hahn, A.W. Parkes, and C.F. Bolton et al. Neuromyotonia in hereditary motor neuropathy J Neurol Neurosurg Psychiatry 54 1991 230 235