1/11. hip dysplasia in charcot-marie-tooth disease: report of a family.charcot-marie-tooth disease is classified into hereditary motor and sensory neuropathy (HMSN) types I and II, and affected patients present with progressive peripheral neuropathy. Some previous orthopedic studies have revealed the association of hip dysplasia with HMSN, in addition to pes cavovarus, scoliosis, and recurrent dislocation of the patella. We describe three patients from the same family who were each diagnosed as having HMSN type I with associated bilateral severe hip dysplasia, borderline abnormalities of both acetabula, and dysplastic osteoarthritis. Based on our experience with these patients and a review of previous reports, we concluded that routine screening of hip joints, especially for those with a family history of HMSN, is necessary for early diagnosis.- - - - - - - - - - ranking = 1keywords = hip dysplasia, hip, dysplasia (Clic here for more details about this article) |
2/11. A girl with duplication 17p10-p12 associated with a dicentric chromosome.We report a 7 1/2-year-old girl with an approximately 9.5 Mb duplication of proximal 17p. Her clinical features include moderately severe developmental delay, absence of speech, talipes, congenital dislocation of the hips, premature adrenarche, dysmorphic facial features, deep palmar creases, and signs and symptoms of peripheral neuropathy consistent with charcot-marie-tooth disease type 1A (CMT1A). Chromosome analysis revealed a partially duplicated 17p with two centromeres on the derivative chromosome. fluorescence in situ hybridization (FISH) analysis demonstrated the tandemly duplicated segment spans 17p10-p12, including the entire smith-magenis syndrome (SMS) critical region and a portion of the CMT1A critical region. One breakpoint mapped within the centromere and the second breakpoint mapped within the CMT1A critical region, distal to the PMP22 gene. Microsatellite polymorphism studies showed that the duplicated chromosome is of maternal origin. We compare the clinical features of our patient to those of individuals with partial trisomy of proximal 17p to further delineate the genotype-phenotype correlation associated with segmental duplication of this chromosomal region.- - - - - - - - - - ranking = 3.3280516342356E-5keywords = hip (Clic here for more details about this article) |
3/11. charcot-marie-tooth disease type 1A duplication with severe paresis of the proximal lower limb muscles: a long-term follow-up study.OBJECTIVE: To describe a large pedigree with charcot-marie-tooth disease type 1A (CMT1A) duplication in which severe pelvic and thigh musculature weakness occurred in two patients, detected by analysing the leg muscle atrophy pattern on magnetic resonance imaging (MRI). methods: The pedigree comprised 18 patients, aged between 15 and 85 (median 46) years, who were serially evaluated for up to three decades. All 18 patients and 13 non-affected at-risk people underwent electrophysiological examination. An MRI study of lower limb musculature was carried out in four patients. Three patients underwent sural-nerve biopsy. genetic testing was carried out in 17 patients and in all 13 at-risk normal people. RESULTS: Fourteen patients were asymptomatic or slightly disabled. The two oldest patients, aged 84 and 80, showed a moderate phenotype. Two other patients, aged 70 and 53, showed late-onset and gradually progressive peroneal paresis extending up to the thigh and pelvic musculature, resulting in waddling gait. MRI scans of all three patients with a mild phenotype showed subtle and subclinical fatty infiltration of calf anterolateral muscle compartments, with thigh muscle involvement in one patient, and extensive atrophy of intrinsic foot muscles. In the youngest patient with proximal leg weakness, the MRI scan showed massive fatty atrophy of all the calf muscles, posteromedial thigh muscle compartments, and internal and external hip rotator muscles. Sural-nerve biopsy specimens showed hypertrophic neuropathy with no superimposed inflammation. Good correlation was seen between electrophysiological and genetic testing. CONCLUSIONS: Late in the clinical course, a small proportion of patients with CMT1A develop severe proximal leg weakness, and long-term follow-up is essential for its detection. MRI scans may show subclinical involvement of the thigh musculature.- - - - - - - - - - ranking = 3.3280516342356E-5keywords = hip (Clic here for more details about this article) |
4/11. Novel C59T leader peptide mutation in the MPZ gene associated with late-onset, axonal, sensorimotor polyneuropathy.The objective of this study was to report a novel exon-1 mutation in the myelin protein zero (MPZ) gene, resulting in axonal Charcot-Marie-Tooth neuropathy with recurrent hyper-CK-emia. In a 64-year-old woman slowly progressive distal lower limb weakness, muscle cramps in the lower limb muscles, and stocking-type numbness had developed from the age of 61. neurologic examination revealed discrete hip flexor weakness, weakness for foot extension, diffuse wasting of the distal lower limb muscles, reduced patella tendon reflexes, and absent achilles tendon reflexes. There was recurrently elevated creatine kinase with a maximum of 607 U/l (n, <145 U/l). Stimulation of the peroneal and tibial nerves did not evoke a muscular response. electromyography was neurogenic. biopsy of the right sural nerve showed diffuse axonal degeneration and loss of axons of all diameters. Muscle biopsy showed increased fiber-size variability, angulated fibers, internalized nuclei, accumulations of nuclei, grouped atrophic muscle fibers, and fiber splitting. Molecular genetic analysis by PCR and direct nucleotide sequencing revealed the heterozygous C59T exon-1 MPZ gene mutation, resulting in the amino acid exchange S20F of the MPZ signal protein domain (leader peptide). The novel C59T mutation in the leader peptide of the MPZ gene is pathogenic and manifests as severe, late-onset, axonal, symmetric sensorimotor polyneuropathy (CMT2) and hyper-CK-emia.- - - - - - - - - - ranking = 3.3280516342356E-5keywords = hip (Clic here for more details about this article) |
5/11. Neurofibromatosis, charcot-marie-tooth disease, or both?The simultaneous occurrence of neurofibromatosis and a peripheral neuropathy that has the clinical and electrophysiological features of charcot-marie-tooth disease (HMSN I) has rarely been reported. A recent report described patients with HMSN I with hypertrophic lumbosacral nerve roots. We report a patient with compelling evidence for neurofibromatosis who also demonstrates clinical and electrophysiological features of charcot-marie-tooth disease. Abdominal and pelvic CT scan revealed diffusely and symmetrically enlarged lumbosacral nerve roots. These nerve roots were biopsied, and the specimens revealed neurofibromas. histology, electrophysiological studies, radiology, and clinical appearance of the abnormality in peripheral nerves and lumbosacral nerve roots will be emphasized in this paper. The simultaneous occurrence in our patient of neurofibromatosis and charcot-marie-tooth disease suggests a possible genetic relationship between these two disorders.- - - - - - - - - - ranking = 3.3280516342356E-5keywords = hip (Clic here for more details about this article) |
6/11. Leber's optic neuropathy and charcot-marie-tooth disease. Report of a case.The case of a patient with charcot-marie-tooth disease who developed the acute fundus findings of Leber's optic neuropathy is described. Previous reports have proposed a genetic interrelationship between the two diseases. This relationship has been speculative, however, because the acute fundus findings of Leber's have never been observed in a case of charcot-marie-tooth disease. This case adds support for a suggested genetic relationship between the two diseases. It is also possible that the optic atrophy previously described in Charcot-Marie-Tooth may represent the late findings of Leber's optic neuropathy.- - - - - - - - - - ranking = 9.9841549027067E-5keywords = hip (Clic here for more details about this article) |
7/11. charcot-marie-tooth disease: study of a large kinship with an intermediate form.A clinical, genetic, electrophysiological and ultrastructural study of a large kinship with peroneal muscular atrophy is reported. There was a noteworthy homogeneity in the phenotype as well as in the electrophysiological characteristics encountered in 15 affected members aged between 7 and 72 years. The symptoms appeared first in the second decade of life and stabilized by the fourth decade. There was no evidence of linkage of the neuropathy gene to the Duffy blood group locus on chromosome 1. The electrophysiological data in this family as well as the ultrastructural findings confirm that there is heterogeneity in hereditary motor and sensory neuropathy type I, and support the concept of an intermediate form of charcot-marie-tooth disease.- - - - - - - - - - ranking = 0.00016640258171178keywords = hip (Clic here for more details about this article) |
8/11. The differential diagnosis of scapuloperoneal amyotrophy.This report deals with a scapuloperoneal syndrome which developed simultanously with pain and distal paresthesias. In addition there was a slight sensory disturbance of glove and stocking type distribution. Motor conduction velocity was within normal limits and all distal latencies of response were normal; only the sensory conduction velocity of the left median nerve was found to be decreased (42.1 m/s). Electromyographic investigations revealed only signs of myopathy. Histological findings (m. deltoideus, m. tibialis anterior) favoured a primary myopathic process. biopsy of the n. suralis revealed no certain pathological changes. The affection appears to have an autosomal dominant mode of inheritance. The sensory disturbance and decreased reflexes indicate an involvement of the nervous system, but the question of relationship to the scapuloperoneal muscular atrophy cannot yet be answered.- - - - - - - - - - ranking = 3.3280516342356E-5keywords = hip (Clic here for more details about this article) |
9/11. charcot-marie-tooth disease associated with hip dysplasia: a case report.A 31-year-old woman with a known history of hip dysplasia was found to have charcot-marie-tooth disease following abnormal conduction studies done at the time of surgery. physical examination in this patient was otherwise normal, and the diagnosis of charcot-marie-tooth disease had not been previously considered. This report demonstrates the importance of keeping in mind the association between hip dysplasia and charcot-marie-tooth disease.- - - - - - - - - - ranking = 2.9997792397738keywords = hip dysplasia, hip, dysplasia (Clic here for more details about this article) |
10/11. Scheuermann's kyphoscoliosis associated with Charcot-Marie-Tooth syndrome.Much confusion and disagreement exists regarding the classification and characteristics of inherited disorders manifesting neurogenic muscular atrophy. Many authors consider Charcot-Marie-Tooth syndrome (CMTS) and Roussy Levy syndrome (RLS) forme fruste or variants of Friedreich's ataxia (FA). Familial kyphoscoliosis has often been described in FA and RLS but not with CMTS. The purpose of this paper is to present detailed clinical and laboratory findings in a family with three cases of Scheuermann's kyphoscoliosis and CMTS in three generations. In all cases Scheuermann's kyphoscoliosis was associated with pes cavus, markedly diminished vibratory and position sensation in the lower extremities, absent deep tendon reflexes and muscular atrophy, predominantly of the distal muscles. Fine rhythmic tremor of outstretched hands and positive Romberg sign were present in one case only. serum creating phosphokinase was elevated in two cases. Motor nerve conduction studies revealed impaired function in the median, ulnar, tibial and peroneal nerves. Sensory nerve conduction wal also impaired in median and ulnar nerves. There was evidence of left ventricular hypertrophy in one case only. The nosology and relationship between CMTS, RLS and FA are discussed.- - - - - - - - - - ranking = 3.3280516342356E-5keywords = hip (Clic here for more details about this article) |
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