Top

Published in:

01-10-2010 | ORIGINAL ARTICLE

Myotonic dystrophy type I combined with X-linked dominant Charcot–Marie–Tooth neuropathy

Authors: Hyun Sook Kim, Ki Wha Chung, Sung Hee Kang, Sung Kyung Choi, Sun Young Cho, Heasoo Koo, Sang-Beom Kim, Byung-Ok Choi

Published in: Neurogenetics | Issue 4/2010

Abstract

Both the myotonic dystrophy type 1 (DM1) and the X-linked dominant Charcot–Marie–Tooth disease (CMTX1) are well-established inherited neuromuscular disorders characterized by progressive weakness and atrophy of the distal limb muscles. The underlying causes of the DM1 and CMTX1 are mutations in the DMPK and GJB1 gene, respectively. A patient with both DM1 and CMTX1 inherited these from his father and mother, respectively. Histopathological and electrodiagnostic studies revealed both chronic neuropathic and myopathic features. Physical disabilities were more severe than seen with either DM1 or CMTX1 alone. In addition, the present case reveals an asymmetric atrophy (22%) of the right calf muscle compared to the left side.

Ranum LP, Day JW (2004) Myotonic dystrophy: RNA pathogenesis comes in to focus. Am J Hum Genet 74:793–804CrossRefPubMed

Buxton J, Shelbourne P, Davies J, Jones C, Van Tongeren T, Aslanidis C, de Jong P, Jansen G, Anvret M, Riley B, Willianson R, Johnson K (1992) Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355:547–548CrossRefPubMed

Gharehbaghi-Schnell EB, Finsterer J, Korschineck I, Mamoli B, Binder BR (1998) Genotype-phenotype correlation in myotonic dystrophy. Clin Genet 53:20–26

Ionasescu VV, Ionasescu R, Searby C (1993) Screening of dominantly inherited Charcot–Marie–Tooth neuropathies. Muscle Nerve 16:1232–1238CrossRefPubMed

Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH (1993) Connexin mutations in X-linked Charcot–Marie–Tooth disease. Science 262:2039–2042CrossRefPubMed

Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW (2007) Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (CMT5X). Am J Hum Genet 81:552–558CrossRefPubMed

Bone LJ, Deschênes SM, Balice-Gordon RJ, Fischbeck KH, Scherer SS (1997) Connexin 32 and X-linked Charcot–Marie–Tooth disease. Neurobiol Dis 4:221–230CrossRefPubMed

Siciliano G, Manca M, Gennarelli M, Angelini C, Rocchi A, Iudice A, Miorin M, Mostacciuolo M (2001) Epidemiology of myotonic dystrophy in Italy: re-appraisal after genetic diagnosis. Clin Genet 59:344–349CrossRefPubMed

Birouk N, LeGuern E, Maisonobe T, Rouger H, Gouider R, Tardieu S, Gugenheim M, Routon MC, Léger JM, Agid Y, Brice A, Bouche P (1998) X-linked Charcot–Marie–Tooth disease with connexin 32 mutations: clinical and electrophysiologic study. Neurology 50:1074–1082PubMed

10.

Hodapp JA, Carter GT, Lipe HP, Michelson SJ, Kraft GH, Bird TD (2006) Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes. Arch Neurol 63:112–117CrossRefPubMed

11.

Kurt S, Karaer H, Kaplan Y, Akat I, Battaloglu E, Druslu D, Basak AN (2010) Combination of myotonic dystrophy and hereditary motor and sensory neuropathy. J Neurol Sci 288:197–199CrossRefPubMed

12.

Bergmann C, Senderek J, Hermanns B, Jauch A, Janssen B, Schröder JM, Karch D (2000) Becker muscular dystrophy combined with X-linked Charcot–Marie–Tooth neuropathy. Muscle Nerve 23:818–823CrossRefPubMed

13.

Chung KW, Sunwoo IN, Kim SM, Park KD, Kim WK, Kim TS, Koo H, Cho M, Lee J, Choi BO (2005) Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot–Marie–Tooth disease family. Neurogenetics 6:159–163CrossRefPubMed

14.

Lee JH, Kang HJ, Song H, Hwang SJ, Cho SY, Kim SB, Kim J, Chung KW, Choi BO (2007) A family harboring CMT1A duplication and HNPP deletion. J Clin Neurol 3:101–104CrossRefPubMed

15.

Spaans F, Faber CG, Smeets HJ, Hofman PA, Braida C, Monckton DG, de Die-Smulders CE (2009) Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot–Marie–Tooth neuropathy and early hearing loss. J Neurol Neurosurg Psychiatry 80:1029–1035CrossRefPubMed

16.

Gouvea SP, S Borghetti VH, Bueno KC, Genari AB, Lourenço CM, Sobreira C, Barreira AA, Marques W Jr (2010) Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes. Neurogenetics 11:135–158

17.

Savić D, Rakocvic-Stojanovic V, Keckarevic D, Culjkovic B, Stojkovic O, Mladenovic J, Todorovic S, Apostolski S, Romac S (2002) 250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1. Hum Mutat 19:131–139CrossRefPubMed

18.

Mathieu J, Boivin H, Meunier D, Gaudreault M, Begin P (2001) Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy. Neurology 56:336–340PubMed

19.

Sobue G, Hashizume Y, Mukai E, Hirayama M, Mitsuma T, Takahashi A (1989) X-linked recessive bulbospinal neuronopathy. A clinicopathological study. Brain 112:209–232CrossRefPubMed

20.

Bort S, Nelis E, Timmerman V, Sevilla T, Cruz-Martínez A, Martínez F, Millán JM, Arpa J, Vílchez JJ, Prieto F, Van Broeckhoven C, Palau F (1997) Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot–Marie–Tooth disease and hereditary neuropathy with liability to pressure palsies. Hum Genet 99:746–754CrossRefPubMed

21.

Chung KW, Suh BC, Shy ME, Cho SY, Yoo JH, Park SW, Moon H, Park KD, Choi KG, Kim S, Kim SB, Shim DS, Kim SM, Sunwoo IN, Choi BO (2008) Different clinical and magnetic resonance imaging features between Charcot–Marie–Tooth disease type 1A and 2A. Neuromuscul Disord 18:610–618CrossRefPubMed

22.

Cros D, Harnden P, Pouget J, Pellissier JF, Gastaut JL, Serratrice G (1988) Peripheral neuropathy in myotonic dystrophy: a nerve biopsy study. Ann Neurol 23:470–476CrossRefPubMed

23.

Mondelli M, Rossi A, Malandrini A, Della Porta P, Guzaai GC (1993) Axonal motor and sensory neuropathy in myotonic dystrophy. Acta Neurol Scand 88:141–148CrossRefPubMed

24.

Kleopa KA, Zamba-Papanicolaou E, Alevra X, Nicolaou P, Georgiou DM, Hadjisavvas A, Kyriakides T, Christodoulou K (2006) Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X. Neurology 66:396–402CrossRefPubMed

Title: Myotonic dystrophy type I combined with X-linked dominant Charcot–Marie–Tooth neuropathy
Authors: Hyun Sook Kim
Ki Wha Chung
Sung Hee Kang
Sung Kyung Choi
Sun Young Cho
Heasoo Koo
Sang-Beom Kim
Byung-Ok Choi
Publication date: 01-10-2010
Publisher: Springer-Verlag
Published in: Neurogenetics / Issue 4/2010
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-010-0246-5

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Myotonic dystrophy type I combined with X-linked dominant Charcot–Marie–Tooth neuropathy

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 4/2010

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish

Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden

Tremor–ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3–10q23.31

Efficient identification of novel mutations in patients with limb girdle muscular dystrophy

Acknowledgement to Referees 2009/2010

GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot–Marie–Tooth disease