Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “TOOTH DISEASES”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 505 records · Page 28Linked to original sources
PubMed1975

[Mitochondrial changes of the skeletal muscle in the peroneal muscular atrophy (Charcot-Marie-Tooth disease). Histological and electron microscopic studies (author's transl)].

This report deals with two sisters (38 and 44 years old) suffering from Charcot-Marie-Tooth disease. Muscle biopsies were taken from the deltoid and the rectus femoris. In one of the cases a sural nerve biopsy was also made. Light microscopy showed only slight myopathic changes. The histochemical reactions disclosed an increase in lipid deposition and in NADH-TR activity of type 1 fibres. Electron microscopy showed abnormal mitochondrial aggregates, which were surrounded inconstantly by glycogen deposits, especially in subsarcolemmal space. Many of the atypical mitochondria showed paracristalline inclusions within the cristae. The significance of these findings is discussed and compared with similar reports in the literature.

Adult↗
PubMed2005

[Charcot-Marie-Tooth disease associated with syringomyelia revealed by urinary disorders].

PURPOSE: Charcot-Marie-Tooth (CMT) disease is characterized by genetic and clinical heterogeneity. The occurrence of urinary disorders is unusual and requires further investigation. CMT disease and syringomyelia are not usually associated. Moreover, primary urinary signs in syringomyelia are not frequent. CASE REPORT: An 11-year-old girl with CMT disease 1A duplication presented with motor deficit of the leg associated with urinary disorders. Urodynamic study revealed neurogenic detrusor overactivity, and magnetic resonance imaging confirmed syringomyelia extending from T11 to an L1 located conus. DISCUSSION: Review of the literature confirmed the possibility of primary urinary signs in syringomyelia, with only one case of CMT and urinary signs described. In this case, the diagnosis was radicullar and medullar compression by a hypertrophic nerve formation called an "onion bulb" reflecting the demyelinisation and remyelinisation cycle. CONCLUSION: Urinary signs in CMT disease are exceptional and require investigation into the possibility of a central lesion.

Charcot-Marie-Tooth Disease↗
PubMed1998

Charcot-Marie-Tooth disease type 1 and 2-an immunohistochemical study of muscle fibre cytoskeletal proteins and a marker for muscle fibre regeneration.

In 10 patients with Charcot-Marie-Tooth disease type 1 (CMT1), hereditary motor and sensory neuropathy (HMSN) type 1, demyelinating form, and 10 patients with CMT2, HMSN type 2, axonal form, monoclonal antibodies directed against dystrophin, spectrin, desmin, vimentin and a myoblast and satellite-cell related antigen, Leu-19, were applied to muscle biopsies from the anterior tibial muscle. Data from the biopsies were compared with those from 20 age- and sex-matched healthy controls. Both CMT1 and CMT2 patients had normal stainings for dystrophin and spectrin, indicating a normal muscle fibre cytoskeletal structure. In the CMT2 group, seven patients had increased staining for desmin in the majority of the atrophic fibres. In the CMT1 group, six of the patients had a normal desmin staining in normal sized and in atrophic muscle fibres, while the remaining four patients had an increased staining for a desmin in a few atrophic muscle fibres. Seven CMT2 patients and one CMT1 patient had increased staining of vimentin in some atrophic muscle fibres. In contrast to CMT1 patients, all CMT2 patients had an increased staining for Leu-19 in a majority of the atrophic muscle fibres. These immunohistochemical data support earlier findings of muscle fibre histopathological differences in CMT1 and CMT2 patients, possible reflecting different pathophysiological mechanisms in the two disorders. Copyright 1998 Lippincott Williams & Wilkins

Journal Article↗
PubMedDate not supplied

Postoperative acute respiratory failure following thoracotomy in a patient with Charcot-Marie-Tooth disease.

We present the case of a patient with Charcot-Marie-Tooth (CMT) disease who required prolonged ventilatory support following a thoracotomy due to respiratory muscle weakness. Although CMT was traditionally believed to affect only skeletal muscles, recent evidence suggests that respiratory involvement is relatively common, even in the absence of pulmonary symptoms. Assessment of respiratory muscle strength using measurements of vital capacity and negative inspiratory force is helpful in evaluating pulmonary reserve in patients with CMT.

Adult↗
PubMed2003

Gait rehabilitation in a patient affected with Charcot-Marie-Tooth disease associated with pyramidal and cerebellar features and blindness.

Charcot-Marie-Tooth (CMT) disease, an inherited neuropathy characterized by length-dependent degeneration of the motor and sensory nerve fibers with consequent distal muscle atrophy and sensory reduction, can be associated with symptoms and signs of involvement of the central nervous system and/or cranial nerves. We present a patient with relatively severe CMT, cerebellar ataxia, pyramidal involvement, and blindness due to Leber's hereditary optic neuropathy. The patient presented with poor standing and gait, with consequent severe disability. Factors responsible for the patient's functional impairment (plantarflexor failure, footdrop, foot rotation, knee flexor contracture, poor proprioception, cerebellar dysfunction, spastic paraparesis, blindness) were identified and addressed by a rehabilitation management, which included, as a main intervention, ankle stabilization by drop-foot boots instead of ankle-foot orthoses. Improved balance and independent ambulation resulted from rehabilitation.

Activities of Daily Living↗
PubMed2001

Charcot-Marie-Tooth disease and sleep apnoea syndrome: a family study.

BACKGROUND: Charcot-Marie-Tooth (CMT) disease is a genetically heterogeneous group of hereditary motor and sensory polyneuropathies in which sleep apnoea has rarely been reported and no causal relation shown. We looked for an association between the most common subtype of CMT disease (CMT1A) and sleep apnoea syndrome. METHODS: Having diagnosed sleep apnoea and CMT in one family member (index case), we prospectively investigated 13 further members not previously suspected of having neuropathy or apnoeas. All had a neurological examination, electroneuromyography, polysomnography, and genetic testing for CMT disease. FINDINGS: 11 of the 14 family members had the autosomal dominant demyelinating form of CMT disease with PMP22 gene duplication on chromosome 17. Whatever their neurological disability, all 11 individuals had sleep apnoea syndrome with a mean (SD) apnoea-hypopnoea index of 46.6/h (28.5) of sleep (normal value <15/h). The remaining three family members were free from neuropathy and sleep apnoea syndrome. Sleep apnoea and neuropathy severity were highly correlated; the compound muscle action potential (CMAP) amplitude of the median nerve was inversely correlated with the apnoea-hypopnoea index (r=-0.69, p=0.029). The severity of neuropathy and sleep apnoea were higher in male CMT individuals and were correlated with age and body mass index. No wake or sleep diaphragmatic dysfunction was shown. INTERPRETATION: We think that sleep apnoea syndrome is related to a pharyngeal neuropathy. Upper airway dysfunction, previously described in the CMT2C subtype, might be a clinical expression of the CMT1A subtype, to which familial susceptibility could predispose.

Adolescent↗
PubMed1999

Acute inflammatory neuropathy in Charcot-Marie-Tooth disease.

The authors report an association between acute inflammatory neuropathy and previously undiagnosed Charcot-Marie-Tooth 1A disease in a 15-year-old girl. Sural nerve biopsy study showed hypertrophic neuropathy with endoneurial infiltrates of macrophages and lymphocytes. This association may be coincidental, but a particular susceptibility to damage of these peripheral nerves cannot be excluded. This report confirms the importance of pes cavus as a sign of long-standing sensorimotor neuropathy.

Action Potentials↗
PubMed1983

Pathogenesis of pes cavus in Charcot-Marie-Tooth disease.

Of 22 persons from a single kinship of known Charcot-Marie-Tooth (CMT) disease, 12 were found to be affected. All 12 had a pes cavus deformity. The insidious atrophy of the intrinsic musculature of the foot progressed to a fixed soft tissue and bony cavus deformity.

Adolescent↗
PubMedDate not supplied

Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.

Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. X-linked CMT (CMTX1) has been localized to the pericentric region of the X chromosome. Recently, mutations have been defined in the connexin32 gene that cosegregate with the CMTX1 phenotype in several families. The present paper presents the results of an international consortium to fine map the gene for CMTX1 to a small segment of Xq12-13. The linkage data, together with the molecular genetic studies, support the hypothesis that connexin32 is the genetic defect in CMTX1.

Charcot-Marie-Tooth Disease↗
PubMed2005

Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.

During mutational analysis of Charcot-Marie-Tooth (CMT) causative genes, we identified a CMT family with two missense mutations in different genes. A R359W mutation in EGR2 was shared by the affected daughter (proband) and her father. In addition, she had a V136A mutation in GJB1, which was determined to be a de novo mutation. The daughter with two different gene mutations showed more severe clinical, electrophysiological and histopathological phenotypes than her father who had only the EGR2 mutation. We suggest that these phenotypic differences between the proband and her father may have been caused by an altered effect of the genetic modifier in EGR2, or by the additive effect of the EGR2 and GJB1 mutations.

Age of Onset↗
PubMed2006

Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.

Autosomal-recessive forms of Charcot-Marie-Tooth (ARCMT) account for less than 10% of the families in the European CMT population but are more frequent in the Mediterranean basin and the Middle East because of more widespread consanguinity. Until now, demyelinating ARCMT was more extensively studied at the genetic level than the axonal form. Since 1999, the number of localized or identified genes responsible for demyelinating ARCMT has greatly increased. Eight genes, EGR2, GDAP1, KIAA1985, MTMR2, MTMR13, NDRG1, PRX, and CTDP1, have been identified and two new loci mapped to chromosomes 10q23 and 12p11-q13. In this review, we will focus on the particular clinical and/or neuropathological features of the phenotype caused by mutations in each of these genes, which might guide molecular diagnosis.

Cataract↗
PubMed2002

Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders.

Charcot-Marie-Tooth (CMT) disease is a typical example of a clinically and genetically heterogeneous disorder and, in most cases, is dominantly inherited and caused by a 1.5 megabase duplication on chromosome 17p11.2 containing the PMP22 gene. This is a non-lethal disease with a wide spectrum of severity, from asymptomatism to severe motor and sensory disability. Unpredictable degree of disability is usually the reason why prenatal diagnosis is required and must be addressed. Molecular procedures such as the use of polymorphic non microsatellite STRs, allowing very fast and reliable results even when requiring a gene dosage interpretation are now available and have been recently validated in post-natal diagnosis. Our results indicate that this approach is also the best-adapted method in case of prenatal diagnosis. Nevertheless, ethical considerations raised by prenatal diagnosis in CMT and more generally in non-lethal disorders remain to be actively considered. Here, we present our experience in genetic counselling, and address the psychological issues for 7 CMT at risk pregnancies. In five cases, a CMT1A duplication was evidenced; pregnancy was terminated in four of these cases and the parents from one affected foetus decided to pursue the pregnancy.

Charcot-Marie-Tooth Disease↗
PubMed1993

Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity.

Charcot-Marie-Tooth (CMT) disease type 2 (CMT2) is an inherited peripheral neuropathy characterized by variable age of onset and normal or slightly diminished nerve conduction velocity. CMT2 is pathologically and genetically distinct from CMT type 1 (CMT1). While CMT1 has been shown to be genetically heterogeneous, no chromosomal localization has been established for CMT2. We have performed pedigree linkage analysis in six large autosomal dominant CMT2 families and have demonstrated linkage and heterogeneity to a series of microsatellites (D1S160, D1S170, D1S244, D1S228 and D1S199) in the distal region of the short arm of chromosome 1. Significant evidence for heterogeneity was found using admixture analysis and the two-point lod scores. Admixture analyses using the multipoint results for the markers D1S244, D1S228, and D1S199 supported the two-point findings. Three families, DUK662, DUK1241, and 1523 gave posterior probabilities of 1.0, 0.98, and 0.88 of being of the linked type. Multipoint analysis examining the "linked" families showed that the most favored location for the CMT2A gene is within the interval flanked by D1S244 and D1S228 (odds approximately 70:1 of lying within versus outside that interval). These findings suggest that the CMT2 phenotype is secondary to at least two different genes and demonstrate further heterogeneity in the CMT phenotype.

Adult↗
PubMed1998

Neuropathic pain in Charcot-Marie-Tooth disease.

OBJECTIVES: To determine the frequency and extent to which subjects with Charcot-Marie-Tooth (CMT) disease report pain and to compare qualities of pain in CMT to other painful neuropathic conditions. STUDY DESIGN: Descriptive, nonexperimental survey, using a previously validated measurement tool, the Neuropathic Pain Scale (NPS). PARTICIPANTS: Participants were recruited from the membership roster of a worldwide CMT support organization. MAIN OUTCOME MEASURES: NPS pain descriptors reported in CMT were compared with those reported by subjects with postherpetic neuralgia (PHN), complex regional pain syndrome, type 1 (CRPS-1), also known as reflex sympathetic dystrophy, diabetic neuropathy (DN), and peripheral nerve injury (PNI). RESULTS: Of 617 CMT subjects (40% response rate), 440 (71%) reported pain. with the most severe pain sites noted as low back (70%), knees (53%), ankles (50%), toes (46%), and feet (44%). Of this group, 171 (39%) reported interruption of activities of daily living by pain; 168 (38%) used non-narcotic pain medication and 113 (23%) used narcotics and/or benzodiazepines for pain. The use of pain description was similar for CMT, PHN, CRPS-1, DN, and PNI in terms of intensity and the descriptors hot, dull, and deep. CONCLUSIONS: Neuropathic pain is a significant problem for many people with CMT. The frequency and intensity of pain reported in CMT is comparable in many ways to PHN, CRPS-1, DN. and PNI. Further studies are needed to examine possible pain generators and pharmacologic and rehabilitative modalities to treat pain in CMT.

Charcot-Marie-Tooth Disease↗