Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

Neuropediatrics

Volumn 35, Issue 3, 2004, Pages 174-182

  Rudnik Schöneborn, Sabine ^a   Stolz, P ^b   Varon, R ^b   Grohmann, K ^b,c   Schachtele M ^d   Ketelsen, U P ^e   Stavrou, D ^f   Kurz, H ^g   Hubner C ^b   Zerres, K ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c UNIVERSITY OF WÜRZBURG   (Germany)

^d Children's Hospital Karlsruhe   (Germany)

^e UNIVERSITY OF FREIBURG   (Germany)

^f UNIVERSITY OF HAMBURG   (Germany)

^g DANUBE HOSPITAL   (Austria)

Author keywords

Diaphragmatic palsy; IGHMBP2 gene mutations; Neurogenic atrophy; SMARD; Spinal muscular atrophy with respiratory distress

Indexed keywords

ARTICLE; ARTIFICIAL VENTILATION; CHILD; CLINICAL ARTICLE; ELECTROMYOGRAPHY; FEMALE; GASTROCNEMIUS MUSCLE; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; IGHMBP2 GENE; INFANT; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; NEONATAL RESPIRATORY DISTRESS SYNDROME; NERVE CONDUCTION; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SPINAL MUSCULAR ATROPHY; SURAL NERVE;

EID: 3242686107     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-820994     Document Type: Article

References (15)

1. Bach JR, Baird JS, Plosky D, Navado J, Weaver B. Spinal muscular atrophy type 1: management and outcomes. Pediatr Pulmonol 2002; 34: 16-22
2. Bertini E, Gadisseux JL, Palmieri G, Ricci E, Di Capua M, Ferriere G et al. Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy. Am J Med Genet 1989; 33: 328-335
3. Bove KE, Iannaccone ST. Atypical infantile spinomuscular atrophy presenting as acute diaphragmatic paralysis. Pediatr Pathol 1988; 8: 95-107
4. Cox GA, Mahaffey CL, Frankel WN. Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele. Neuron 1998; 21: 1327-1337
5. Eckstein HB. The investigation of the neuropathic bladder. In: Brodehl J, Ehrich JHH (eds). Paediatric Nephrology. Berlin: Springer, 1984: chapter 2.16
6. Grohmann K, Wienker TF, Saar K, Rudnik-Schöneborn S, Stoltenburg-Didinger G, Rossi R et al. Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21. Am J Hum Genet 1999; 65: 1459-1462
7. Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C et al. Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet 2001; 29: 75-77
8. Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E et al. Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Ann Neurol 2003; 54: 719-724
9. McWilliam RC, Gardner-Medwin D, Doyle D, Stephenson JBP. Diaphragmatic paralysis due to spinal muscular atrophy. Arch Dis Child 1985; 60: 145-149
10. Molnar GM, Crozat A, Kraeft SK, Dou QP, Chen LB, Pardee AB. Association of the mammalian helicase MAH with the pre-mRNA splicing complex. Proc Natl Acad Sci USA 1997; 94: 7831-7836
11. Novelli G, Capon F, Tamisari L, Grandi E, Angelini C, Guerrini P et al. Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13. J Med Genet 1995; 32: 2161-2219
12. Pitt M, Houlden H, Jacobs J, Mok Q, Harding B, Reilly M et al. Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1. Brain 2003; 126: 1-11
13. Rudnik-Schöneborn S, Forkert R, Hahnen E, Wirth B, Zerres K. Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. Neuropediatrics 1996; 27: 8-15
14. Rudnik-Schöneborn S, Goebel HH, Schlote W, Molaian S, Omran H, Ketelsen U-P et al. Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy. Neurology 2003; 60: 983-987
15. Stoltenburg-Didinger G, Diers A, Kaczinski M, Grohmann K, VaronMateeva R, Hübner C. Ultrastructure of peripheral nerves and the neuromuscular junction in spinal muscular atrophy with respiratory distress type 1. Brain Pathol 2003; 13: S40