[Tooth diseases. Tooth and periodontal diseases].
Explore the source record for details and available documents.
Nursing, Practical↗
SEARCH · PubMed Health
Results for “Tooth Diseases”
Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
[Dental pathology from extra-dental causes. Acquired visceral tooth diseases and prenatal tooth diseases].
Explore the source record for details and available documents.
Chronic Disease↗
A case of Charcot-Marie-Tooth disease mimicking Friedreich's ataxia: is there any association between friedreich's ataxia and Charcot-Marie-Tooth disease?
The authors report a case of Charcot-Marie-Tooth disease that mimicked Friedreich's ataxia and featured impaired tendon reflexes in the limbs, incoordination mimicking cerebellar disease in the extremities, extensor plantar responses on both sides, bilateral foot deformity, imparied position sense in the toes, absent vibratory sense in the distal parts of the legs and minimal distal weakness with wasting. Motor conduction velocity in the upper limbs was substantially reduced. Other cases similar in nature reported in the literature resemble spino-cerebellar degeneration in general, and Friedreich's ataxia, in particular. It is emphasized that the natural history, EMG, motor conduction velocity studies and examination of other affected members of the family permit the correct diagnosis to be made in such cases. It is also emphasized that patients similar to the one reported here may also resemble, and should be differentiated from, cases of familial dorsal column ataxia (Biemond type). Stress is put upon the fact that when Charcot-Marie-Tooth disease mimicks spino-cerebellar degeneration, substantial slowing of motor conduction in the upper limbs is generally sufficient to establish the diagnosis. The relation between Friedreich's ataxia an Charcot-Marie-Tooth disease is reviewed and it is concluded that these two disorders are distinct clinical and pathological entities.
Adolescent↗
[From gene to disease; Charcot-Marie-Tooth disease or the hereditary motor and sensory neuropathies].
Charcot-Marie-Tooth disease is a clinically and genetically heterogeneous group of inherited neuropathies. The common clinical symptoms include distal muscle weakness, wasting and impaired distal sensation, more in the legs than in the arms, and reduced or absent reflexes. Moreover, foot and hand deformities are often encountered. A distinction between a primarily demyelinating or axonal neuropathy is often possible by means of nerve conduction studies. The major groups of inheritance are the autosomal dominant CMT1 (demyelinating), CMT2 (axonal) and the X-linked type (CMTX), but there are also autosomal recessive demyelinating (CMT4) and axonal (AR-CMT2) forms. The number of genes and loci is steadily increasing, with genes encoding proteins involved in myelin maintenance and axonal function, but also with genes encoding proteins, the function of which in peripheral nerve maintenance is notyet clear. Despite the increase in the number of known genes, especially for CMT2, there are many patients in whom no mutation can yet be found.
Charcot-Marie-Tooth Disease↗
An autoradiographic study of muscular dystrophy, motor neuron disease and Charcot-Marie-Tooth disease.
The autoradiographic findings using tritiated leucine are described in muscle biopsy material from five patients with progressive muscular dystrophy (P.M.D.), three with motor neuron disease (M.N.D.) and four with Charcot-Marie-Tooth disease (C.M.T.). In progressive muscular dystrophy there is a marked increase in uptake of leucine into cytoplasmic proteins and precursors, and reduced incorporation into structural protein. In Charcot-Marie Tooth disease muscle there is a significantly increased uptake into cytoplasmic elements and a normal uptake into structural protein. In motor neuron disease the uptake into cytoplasmic elements appears normal but is reduced into structural proteins. The abnormal uptake in C.M.T. could be explained as a product of regenerative efforts associated with reinnervation. However, the abnormal uptake may represent the primary effects of gene action in the muscle, as seems probable in progressive muscular dystrophy.
Charcot-Marie-Tooth Disease↗
[Hereditary motor and sensory neuropathy of Charcot-Marie-Tooth disease].
Charcot-Marie-Tooth disease (Hereditary Motor and Sensory Neuropathy) sometimes begins during childhood and can lead to learning and/or orthopedic disabilities. Due to the genetic and clinical heterogeneity of the disease, the diagnosis is based on a familial study of clinical, electromyographic and pathological abnormalities. Two major types of Charcot-Marie-Tooth disease have been described. Type 1 is characterized by a decrease in nerve conduction velocities and by a peripheral nerve hypertrophy due to myelinic alterations, while type 2 is the consequence of axonal alterations. Although type 1 and type 2 patients share similar clinical symptoms, type 2 patients have normal nerve conduction velocities and histological signs of axonal damage. Several genes involved in this disease have been recently located, and, in certain cases, an individual and direct diagnosis is available if the familial abnormality is related to chromosome 17.
Adolescent↗
Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease type 1B.
Explore the source record for details and available documents.
Amino Acid Substitution↗
Disease course of Charcot-Marie-Tooth disease type 2: a 5-year follow-up study.
BACKGROUND: Charcot-Marie-Tooth disease (CMT) type 2 is the axonal variant of an inherited, sensorimotor polyneuropathy. To our knowledge, the clinical course of CMT type 2 has never been prospectively studied in a large group of patients. OBJECTIVE: To prospectively evaluate the disease course of patients with CMT type 2. METHODS: We prospectively evaluated the disease course in patients with CMT type 2. Forty-three patients (24 men) of 27 families with CMT type 2 were included. All patients were analyzed by the same investigator at entry and after 5 years. The standardized protocol included manual muscle testing, which could lead to a motor sum score of 140 points, and quantification of sensory deficit. Disability was assessed using the modified Rankin scale, and quality of life was assessed using the RAND 36-item health survey questionnaire. Eighteen families were tested for known mutations in the MPZ, PMP22, and GJB1 genes. RESULTS: At entry, the mean +/- SD age of the patients was 52 +/- 14 years, and the mean +/- SD duration of disease was 12 +/- 8 years. The median motor sum score deteriorated from 135 to 128 points (P =.02). Progression was never rapid. There was no sensory deterioration. The Rankin score decreased by 1 point in 16 patients. At follow-up, more patients needed walking aids, but most patients remained ambulant. The number of patients with claw toes increased, whereas the number of patients with foot deformities such as pes cavus and short calf muscles remained stable. There was no correlation between deterioration and age. Analysis of quality of life did not show any changes. In one family, a mutation in the GJB1 gene was found. CONCLUSION: This prospective study shows a slow deterioration of muscle strength and increase in disability in CMT type 2 during a 5-year follow-up period.
Adult↗
Laryngeal electromyographic findings in Charcot-Marie-Tooth disease type II.
Charcot-Marie-Tooth disease is a hereditary motor and sensory neuropathy that exhibits progressive muscular atrophy in the limbs, beginning with the lower extremities. It is now understood to be a heterogeneous group of disorders that can be differentiated both clinically and genetically. In Charcot-Marie-Tooth disease type II C, axonal neuropathy, diaphragm weakness, and vocal cord paralysis are described within kindreds. We used laryngeal electromyography to study a patient with this disorder. This technique has potential in the diagnosis of Charcot-Marie-Tooth disease type II.
Adult↗
Foot and ankle manifestations of Charcot-Marie-Tooth disease.
The term Charcot-Marie-Tooth disease represents a spectrum of neurological dysfunction more recently described as hereditary motor-sensory neuropathies. An abnormality of myelination is thought to be responsible for the clinical manifestations. While histological findings have been well described, the exact biochemical basis for this disorder remains unknown. Over one half of patients with Charcot-Marie-Tooth disease manifest foot and ankle problems, including pain, weakness, deformity, and, rarely, paresthesias. Characteristic patterns of neuromuscular weakness have been identified. Bilateral pes cavovarus is the most common pathologic foot deformity seen. The specific components include hindfoot varus, anterior or forefoot cavus, and, often clawtoes. The etiology of this abnormal foot posture usually results from tibialis posterior overpowering peroneus brevis coupled with peroneus longus overpowering tibialis anterior. Multiple treatment options have been described. Rationale for specific tendon transfers, soft tissue release, osteotomies, and arthrodesis is discussed. Results of surgical intervention are difficult to interpret and compare because of the wide spectrum of both neurological dysfunction and described operative procedures. In the presence of flexible deformity, early soft tissue release and tendon transfers may help prevent or delay more extensive bony procedures. The clinical results of triple arthrodesis in the Charcot-Marie-Tooth disease patient appear to deteriorate with time. Genetic transmission, progression of the neurological dysfunction, flexibility of the deformity, distribution of muscular weakness, and anticipated foot demands vary a great deal within this patient population. Treatment decisions, therefore, must be individualized and based upon a clear history, careful examination, and well-defined patient goals.
Ankle Joint↗
[Molecular genetics of Charcot-Marie-Tooth disease].
Charcot-Marie-Tooth disease (CMT) affects the peripheral nervous system. It is generally inherited in an autosomal dominant pattern, but also is inherited in recessive or an X-linked pattern. The degree of severity can vary greatly from patient to patient, even within the same family. Traditionally, the different classes of CMT have been divided into demyelinating forms and axonal forms. Until 10 years ago, the genetic basis of CMT disease was largely unknown. An intrachromosomal duplication on chromosome 17 was found in 1991, and a point mutation in the peripheral myelin protein-22 gene was discovered in 1992. The work starts a new stage of the molecular basis of this large group of peripheral neuropathies. In this review, we will summarize what is known today about the genetics of CMT, and what we have learned about the underlying disease mechanisms.
Animals↗
Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth disease (CMT) is the most common hereditary peripheral neuropathy, affecting 1 in 2,500 people. The only treatment currently available is rehabilitation or corrective surgery. The most frequent form of the disease, CMT-1A, involves abnormal myelination of the peripheral nerves. Here we used a mouse model of CMT-1A to test the ability of ascorbic acid, a known promoter of myelination, to correct the CMT-1A phenotype. Ascorbic acid treatment resulted in substantial amelioration of the CMT-1A phenotype, and reduced the expression of PMP22 to a level below what is necessary to induce the disease phenotype. As ascorbic acid has already been approved by the FDA for other clinical indications, it offers an immediate therapeutic possibility for patients with the disease.
Animals↗
Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of disorders and is the most common inherited neuromuscular disorder, with an estimated overall prevalence of 17-40/10,000. Although there has been major advances in the understanding of the genetic basis of CMT in recent years, the most useful classification is still a neurophysiological classification that divides CMT into type 1 (demyelinating; median motor conduction velocity < 38 m/s) and type 2 (axonal; median motor conduction velocity > 38 m/s). An intermediate type is also increasingly being described. Inheritance can be autosomal-dominant (AD), X-linked, or autosomal-recessive (AR). AD CMT1 is the most common type of CMT and was the first form of CMT in which a causative gene was described. This review provides an up-to-date overview of AD CMT1 concentrating on the molecular genetics as the clinical, neurophysiological, and pathological features have been covered elsewhere. Four genes (PMP22, MPZ, LITAF, and EGR2) have been described in the last 15 yr associated with AD CMTI and a further gene (NEFL), originally described as causing AD CMT2 can also cause AD CMT1 (by neurophysiological criteria). Studies have shown many of these genes, when mutated, can cause a wide range of CMT phenotypes from the relatively mild CMT1 to the more severe Dejerine-Sottas disease and congenital hypomyelinating neuropathy, and even in some cases axonal CMT2. This review discusses what is known about these genes and in particular how they cause a peripheral neuropathy, when mutated.
Animals↗
A transgenic rat model of Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy in humans and has been associated with a partial duplication of chromosome 17 (CMT type 1A). We have generated a transgenic rat model of this disease and provide experimental evidence that CMT1A is caused by increased expression of the gene for peripheral myelin protein-22 (PMP22, gas-3). PMP22-transgenic rats develop gait abnormalities caused by a peripheral hypomyelination, Schwann cell hypertrophy (onion bulb formation), and muscle weakness. Reduced nerve conduction velocities closely resemble recordings in human patients with CMT1A. When bred to homozygosity, transgenic animals completely fail to elaborate myelin. We anticipate that the CMT rat model will facilitate the identification of a cellular disease mechanism and serve in the evaluation of potential treatment strategies.
Animals↗
Sonography of the median nerve in Charcot-Marie-Tooth disease.
OBJECTIVE: The purpose of our study was to describe the features on high-frequency sonography of median nerves in patients with Charcot-Marie-Tooth disease and determine whether sonography can help in the detection and characterization of the disease in these patients. SUBJECTS AND METHODS: The median nerves of 24 patients with genetically proven Charcot-Marie-Tooth disease (12 patients with Charcot-Marie-Tooth disease type 1A, seven with Charcot-Marie-Tooth disease type 2, and five with Charcot-Marie-Tooth disease type X) were prospectively examined at the right mid forearm with a 12-5-MHz transducer. Image analysis for each patient included measurement of both the cross-sectional area and fascicular diameter of the nerve. Correlations then were made with genetic and electrophysiologic features and with findings in a control group of 50 subjects. RESULTS: Sonography was found to be a reliable means of detecting the nerve hypertrophy and the fascicular swelling occurring in patients with Charcot-Marie-Tooth disease. The 1A type of Charcot-Marie-Tooth disease could be distinguished sonographically by a larger nerve area and fascicular diameter than those observed in patients with the other types of disease (including Charcot-Marie-Tooth disease type 2 and X-linked type) and the control subjects. In patients with Charcot-Marie-Tooth disease and control subjects, linear regression analysis did not show a correlation between either the cross-sectional area or fascicular diameter of the nerve and the patient's height, body mass, sex, or electrophysiologic parameters. CONCLUSION: High-resolution sonography can be used to detect the hypertrophy of median nerves in patients with Charcot-Marie-Tooth disease. It can be helpful in defining the Charcot-Marie-Tooth type 1A on the basis of the larger nerve sizes and fascicular diameters than those occurring in patients with other types of the disease. In an affected kindred, sonography is promising as a screening tool for identifying individuals who should undergo genetic assessments.
Adolescent↗
Intermittent positive airway pressure by nasal mask as a treatment for respiratory insufficiency in a patient with Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth disease (CMT) is a slowly progressive hereditary neuropathy characterised by degeneration of motor and sensory peripheral nerves resulting in distal muscle weakness with atrophy and sensory impairment. We report a 35-year-old woman with CMT presenting with respiratory failure due to a pneumonia, sputum impaction and insufficient cough reflex. After recovery, we diagnosed a very severe restrictive lung function disturbance caused by muscle weakness and a possible coexistent unilateral diaphragm paralysis. A very severe REM (Rapid Eye Movement Sleep) related sleep hypopnea syndrome was successfully treated with Nasal Intermittent Positive Pressure Ventilation (NIPPV).
Adult↗
Linkage localization of X-linked Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy, is a heterogeneous group of slowly progressive, degenerative disorders of peripheral nerve. X-linked CMT (CMTX) (McKusick 302800), a subdivision of type I, or demyelinating, CMT is an X-linked dominant condition with variable penetrance. Previous linkage analysis using RFLPs demonstrated linkage to markers on the proximal long and short arms of the X chromosome, with the more likely localization on the proximal long arm of the X chromosome. Available variable simple-sequence repeats (VSSRs) broaden the possibilities for linkage analysis. This paper presents new linkage data and recombination analysis derived from work with four VSSR markers--AR, PGKP1, DXS453, and DXYS1X--in addition to analysis using RFLP markers described elsewhere. These studies localize the CMTX gene to the proximal Xq segment between PGKP1 (Xq11.2-12) and DXS72 (Xq21.1), with a combined maximum multipoint lod score of 15.3 at DXS453 (theta = 0).
Charcot-Marie-Tooth Disease↗
Understanding Schwann cell-neurone interactions: the key to Charcot-Marie-Tooth disease?
Charcot-Marie-Tooth disease (CMT) comprises a heterogeneous group of disorders. The most frequent subtype is caused by increased PMP22 gene dosage or missense point mutations affecting the PMP22 gene (CMT type 1A; CMT1A). Animal models in rat and mouse with the corresponding PMP22 alterations are available and mimic many aspects of the human diseases. Detailed examinations of the animal mutants, together with complementary data from patients, point towards altered Schwann cell-neurone interactions as a major underlying mechanism of CMT1A and related hereditary neuropathies. This is evident from the finding that mutated proteins affecting either Schwann cells or neurones have a profound influence on their partner cells. Recently, a number of novel genes causing various forms of CMT have been identified which are expressed either mainly by Schwann cells and/or by the accompanying neurones. These genes can be viewed, in analogy to classic experiments routinely performed in lower vertebrates, as the result of a 'functional screen' revealing crucial players in the interactions between Schwann cells and neurones. Studying how Schwann cell and axon-encoded proteins are functionally interconnected will be an exciting task for the future. It will not only yield insights into the molecular and cellular basis of neuropathies but also provide crucial information about the interplay between Schwann cells and neurones in general.
Animals↗