The devastating combination of Charcot–Marie–Tooth disease and facioscapulohumeral muscular dystrophy

Bütefisch, Cathrin M.; Lang, David F.; Gutmann, Ludwig

doi:10.1002/(sici)1097-4598(199806)21:6<788::aid-mus11>3.3.co;2-f

Cited by 4 publications

(4 citation statements)

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“…To the best of our knowledge, the combination of CMT1A and DMD has not been reported as of yet, and only two further cases of a combination of CMT disease with a muscular dystrophy have been described. Bütefisch et al reported a female who inherited facioscapulohumeral muscular dystrophy and CMT1A from her parents [7]. Bergmann et al described a young male with a combination of two X‐linked disorders – BMD and X‐linked CMT neuropathy [6].…”

Section: Discussionmentioning

confidence: 99%

Charcot‐Marie‐Tooth neuropathy type 1A combined with Duchenne muscular dystrophy

Vondráček¹,

Hermanová²,

Sedláčková³

et al. 2007

Euro J of Neurology

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We report a 24-year-old male with an unusual combination of two inherited neuromuscular disorders--Charcot-Marie-Tooth (CMT) disease type 1A and Duchenne muscular dystrophy (DMD). A phenotypic presentation of this patient included features of both these disorders. Nerve conduction studies revealed demyelinating peripheral neuropathy. Electromyography showed a profound myogenic pattern. The serum creatine kinase level was highly elevated. Muscle biopsy revealed a dystrophic picture with deficient dystrophin immunostaining. CMT1A duplication on chromosome 17p11.2 was found. The frame-shift mutation c.3609-3612delTAAAinsCTT (p.K1204LfsX11) was detected in the dystrophin gene by analysing mRNA isolated from the muscle tissue. The patient inherited both these mutations from his mother. The combination of CMT1A and DMD has not been reported as yet.

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Section: Discussionmentioning

confidence: 99%

Charcot‐Marie‐Tooth neuropathy type 1A combined with Duchenne muscular dystrophy

Vondráček¹,

Hermanová²,

Sedláčková³

et al. 2007

Euro J of Neurology

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“…Several patients have been reported to have an unusual incidental combination of two neuromuscular diseases of CMT and muscle diseases, such as myotonic dystrophy, Becker muscular dystrophy (MIM♯ 300376), and facioscapulohumeral muscular dystrophy [Bergmann et al, 2000; Bütefisch et al, 1998; Hodapp et al, 2006; Kim et al, 2010]. Recently, a Dutch CMT neuropathy family that also showed complex phenotypes of myotonic dystrophy, encephalopathic attacks, and hearing loss revealed an atypical complex mutations at the DM1 locus (MIM♯ 160900) [Braida et al, 2010; Spaans et al, 2009].…”

Section: Introductionmentioning

confidence: 99%

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14

et al. 2011

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Both peripheral neuropathy and distal myopathy are well-established inherited neuromuscular disorders characterized by progressive weakness and atrophy of the distal limb muscles. A complex phenotype of peripheral neuropathy, myopathy, hoarseness and hearing loss was diagnosed in a large autosomal dominant Korean family. A high density SNP-based linkage study mapped the underlying gene to a region on chromosome 19q13.3. The maximum multipoint LOD score was 3.794. Sequencing of 34 positional candidate genes in the segregating haplotype revealed a novel c.2822G>T (p.Arg941Leu) mutation in the gene MYH14, which encodes the nonmuscle myosin heavy chain 14. Clinically we observed a sequential pattern of the onset of muscle weakness starting from the anterior to the posterior leg muscle compartments followed by involvement of intrinsic hand and proximal muscles. The hearing loss and hoarseness followed the onset of distal muscle weakness. Histopathologic and electrodiagnostic studies revealed both chronic neuropathic and myopathic features in the affected patients. While mutations in MYH14 have been shown to cause nonsyndromic autosomal dominant hearing loss (DFNA4), the peripheral neuropathy, myopathy, and hoarseness have not been associated with MYH14. Therefore, we suggest that the identified mutation in MYH14 significantly expands the phenotypic spectrum of this gene.

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“…To our knowledge, so far only 3 patients with a combination of CMT and a muscular dystrophy have been reported. The first patient, CMT1A (PMP22 duplication) coexisting with facioscapulohumeral muscular dystrophy in a woman was reported by B€ utefisch et al 4 The second patient, a 27-year-old man described by Bergmann et al 5 had X-linked Charcot-Marie-Tooth neuropathy (Connexin 32 mutation) coexisting with BMD (exon3-7 deletion in dystrophin). The third patient was a 24-year-old man with CMT1A (PMP22 duplications) and DMD (frame-shift mutation in dystrophin c.3609-3612del-TAAAinsCTT) reported by Vondracek et al 6 Both mutations in the third patient were inherited from his mother.…”

Section: Discussionmentioning

confidence: 99%

Coexistence of peripheral myelin protein 22 and dystrophin mutations in a chinese boy

et al. 2013

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The devastating combination of Charcot–Marie–Tooth disease and facioscapulohumeral muscular dystrophy

Cited by 4 publications

References 0 publications

Charcot‐Marie‐Tooth neuropathy type 1A combined with Duchenne muscular dystrophy

Charcot‐Marie‐Tooth neuropathy type 1A combined with Duchenne muscular dystrophy

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14

Coexistence of peripheral myelin protein 22 and dystrophin mutations in a chinese boy

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