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>3.0.co;2-p

Cited by 15 publications

(11 citation statements)

References 11 publications

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“…Although rare, severe proximal impairment was observed, but it was never more intense than the distal weakness. AuerGrumbalch et al [2] described a patient in whom weakness was predominantly proximal but, in such cases, an associated disorder like fascioscapulohumeral muscular dystrophy should be considered, as described by Büte-fisch et al [10]. Calf hypertrophy is now a well accepted [16,49,52] and was found in five of our patients.…”

Section: Discussionmentioning

confidence: 86%

17p duplicated Charcot–Marie–Tooth 1A

et al. 2005

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The most frequent type of Charcot-Marie-Tooth (CMT) neuropathy is that associated with the 17p11.2-p12 chromosome duplication, whose characteristics have been well described in European and North American populations. In this study, we analyzed a Brazilian population exhibiting the mutation, found in 57 patients from 42 families (79%) of a cohort of 53 families with demyelinating CMT. Almost 20% of the duplicated cases were sporadic. In 77% of the duplicated families the mutation event occurred in the hot spot area of the CMT1A-Rep region. Forty-five percent of patients were females, 84% were Caucasians and 13% of African descent. Distal limb weakness was the most frequent abnormality, appearing in 84% of patients, although uncommon manifestations such as severe proximal weakness, floppy baby syndrome, diaphragmatic weakness and severe scoliosis were also observed. One patient was wheelchair-bound, and three suffered severe hand weakness. Sensory abnormalities were detected in 84% of the cases, but 80% were unaware of this impairment. Twelve patients complained of positive sensory manifestations such as pain and paresthesias. Progression was reported by 40%. Motor conduction velocities in the upper limbs were always less than 35 m/s, and less than 30.4 m/s in the peroneal nerve. The findings of this study expand the clinical spectrum of the disease.

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Section: Discussionmentioning

confidence: 86%

17p duplicated Charcot–Marie–Tooth 1A

et al. 2005

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“…Motor milestones delayed at 6 months with later manifestations of bilateral pes cavus, absent deep tendon reflexes, and sensory loss are indicative of CMT1A. Upon review of literature, Charcot-Marie-Tooth neuropathies in association with various forms of muscular dystrophy have been reported in four cases [10][11][12][13]. Butefisch et al first reported on a 22-year-old female who inherited both facioscapulohumeral muscular dystrophy (FSHD) and CMT1A from each of her parents leading to shortened life span and early death [11].…”

Section: Discussionmentioning

confidence: 99%

“…Upon review of literature, Charcot-Marie-Tooth neuropathies in association with various forms of muscular dystrophy have been reported in four cases [10][11][12][13]. Butefisch et al first reported on a 22-year-old female who inherited both facioscapulohumeral muscular dystrophy (FSHD) and CMT1A from each of her parents leading to shortened life span and early death [11]. The second report is of a 27-year-old male who inherited the X-linked Charcot-Marie-Tooth disease from his mother caused by a mutation in the connexin32 gene and acquired a de novo in-frame deletion in his DMD gene leading to a milder form, BMD [12].…”

Section: Discussionmentioning

confidence: 99%

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Co-occurrence of Xp21 microduplication encompassing the DMD locus in conjunction with 17p12/PMP22 microduplication in a female with Charcot–Marie–Tooth disease type 1A

Sidhu

Hankerd

Kennelly

et al. 2015

Egyptian Journal of Medical Human Genetics

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We report on the molecular detection of two microduplications involving chromosomes Xp21.1-Xp21.2 and 17p12 in a 35-year-old female with clinical phenotype of Charcot-MarieTooth disease type 1A (CMT1A) documented by chromosomal microarray analysis. The 17p12 microduplication was approximately 1.32 Mb in size and contained eleven genes including the peripheral myelin protein 22 (PMP22), while the Xp21.1-Xp21.2 microduplication was estimated to be 626 Kb in size and contained part of the dystrophin (DMD) gene. Constitutional interstitial microduplication of 17p12 segment encompassing the PMP22 gene has been reported in individuals with Charcot-Marie-Tooth disease type 1A. Defects in the DMD gene (deletion, duplication, or mutation) are associated with Duchenne and Becker muscular dystrophies (DMD and BMD). Combined microduplications of Xp21/DMD with 17p12/PMP22 are extremely rare with only one published report of a male patient with changes in both the DMD and PMP22 genes. Ó 2014 Production and hosting by Elsevier B.V. on behalf of Ain Shams University.

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“…Recent studies suggested that atypical or severe phenotypes of CMT may result from combined effects of multiple mutated genes expressing in the peripheral nerves or in the neuromuscular system [14]. Combinations of CMT1A and the other inherited muscle disorders (Duchenne/Becker muscular dystrophy, facioscapulohumeral muscular dystrophy) with severe phenotype were previously reported in the literature [15][16][17].…”

Section: Discussionmentioning

confidence: 99%