A Large New England Kindred With Autosomal Dominant Neurogenic Scapuloperoneal Amyotrophy With Unique Features

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

“…1b). These findings, together with previous clinical and neurophysiological data 1 , support a diagnosis of spinal neurogenic amyotrophy due to peripheral motor neuropathy.…”

“…Sensory impairment was found in some individuals with CMT2C but was not obvious in most of the individuals with SPSMA, with the exception of reduced vibratory sense at 256 Hz in the feet in some individuals with SPSMA 1,2 . However, it has become apparent that mutations in the same gene can cause distinct phenotypes or a spectrum of related phenotypes, as in CMT and hereditary motor neuropathy (HMN).…”

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

“…1b). These findings, together with previous clinical and neurophysiological data 1 , support a diagnosis of spinal neurogenic amyotrophy due to peripheral motor neuropathy.…”

“…Sensory impairment was found in some individuals with CMT2C but was not obvious in most of the individuals with SPSMA, with the exception of reduced vibratory sense at 256 Hz in the feet in some individuals with SPSMA 1,2 . However, it has become apparent that mutations in the same gene can cause distinct phenotypes or a spectrum of related phenotypes, as in CMT and hereditary motor neuropathy (HMN).…”

CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene

“…[9][10][11][12] The SPSMA family had variable skeletal abnormalities that included congenital hip dysplasia, scoliosis, smaller hands with clinodactyly, and one arm or leg shorter than the other. 9,18 The family members were not described as being short, but a subsequent sporadic case was noted to have short stature (height not given) compatible with the more detailed findings of the present study. 12 In the present study, we enlarge and unify the phenotypic spectrum associated with mutations in Figure 3 Sequence chromatograms of portions of exons 6 and 10 of TRPV4 from affected individuals with CMT2C in 2 families (A) A heterozygous C to A transversion at nucleotide 1625 (in exon 10) in an affected subject in family 1.…”

Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation

“…On the other hand, the characteristic shoulder girdle atrophy and weakness with scapular winging, combined with peroneal atrophy and findings of chronic denervation on shoulder girdle and distal muscles are the hallmarks of SPMA [10]. Our patient, therefore, had features suggestive of an overlap syndrome combining CMT2C and SPMA.…”

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

“…1b). These findings, together with previous clinical and neurophysiological data 1 , support a diagnosis of spinal neurogenic amyotrophy due to peripheral motor neuropathy.…”

“…Sensory impairment was found in some individuals with CMT2C but was not obvious in most of the individuals with SPSMA, with the exception of reduced vibratory sense at 256 Hz in the feet in some individuals with SPSMA 1,2 . However, it has become apparent that mutations in the same gene can cause distinct phenotypes or a spectrum of related phenotypes, as in CMT and hereditary motor neuropathy (HMN).…”

CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene

“…[9][10][11][12] The SPSMA family had variable skeletal abnormalities that included congenital hip dysplasia, scoliosis, smaller hands with clinodactyly, and one arm or leg shorter than the other. 9,18 The family members were not described as being short, but a subsequent sporadic case was noted to have short stature (height not given) compatible with the more detailed findings of the present study. 12 In the present study, we enlarge and unify the phenotypic spectrum associated with mutations in Figure 3 Sequence chromatograms of portions of exons 6 and 10 of TRPV4 from affected individuals with CMT2C in 2 families (A) A heterozygous C to A transversion at nucleotide 1625 (in exon 10) in an affected subject in family 1.…”

Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation

“…On the other hand, the characteristic shoulder girdle atrophy and weakness with scapular winging, combined with peroneal atrophy and findings of chronic denervation on shoulder girdle and distal muscles are the hallmarks of SPMA [10]. Our patient, therefore, had features suggestive of an overlap syndrome combining CMT2C and SPMA.…”

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

“…1b). These findings, together with previous clinical and neurophysiological data 1 , support a diagnosis of spinal neurogenic amyotrophy due to peripheral motor neuropathy.…”

“…Sensory impairment was found in some individuals with CMT2C but was not obvious in most of the individuals with SPSMA, with the exception of reduced vibratory sense at 256 Hz in the feet in some individuals with SPSMA 1,2 . However, it has become apparent that mutations in the same gene can cause distinct phenotypes or a spectrum of related phenotypes, as in CMT and hereditary motor neuropathy (HMN).…”

CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene

“…[9][10][11][12] The SPSMA family had variable skeletal abnormalities that included congenital hip dysplasia, scoliosis, smaller hands with clinodactyly, and one arm or leg shorter than the other. 9,18 The family members were not described as being short, but a subsequent sporadic case was noted to have short stature (height not given) compatible with the more detailed findings of the present study. 12 In the present study, we enlarge and unify the phenotypic spectrum associated with mutations in Figure 3 Sequence chromatograms of portions of exons 6 and 10 of TRPV4 from affected individuals with CMT2C in 2 families (A) A heterozygous C to A transversion at nucleotide 1625 (in exon 10) in an affected subject in family 1.…”

Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation

“…On the other hand, the characteristic shoulder girdle atrophy and weakness with scapular winging, combined with peroneal atrophy and findings of chronic denervation on shoulder girdle and distal muscles are the hallmarks of SPMA [10]. Our patient, therefore, had features suggestive of an overlap syndrome combining CMT2C and SPMA.…”