1/47. 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.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
2/47. A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.Hereditary motor and sensory neuropathies (HMSN) comprises a wide clinical spectrum of related disorders with defects in peripheral nerve myelination. Charcot-Marie-Tooth type 1 (CMT1) is the most common form and is usually a mild disease with onset in the first or second decade; however there is a interfamilial and intrafamilial clinical variation, ranging from asymptomatic expression to severe muscular weakness and atrophy. Recently point mutations in the early growth response 2 gene (EGR2/Krox-20) have been associated with hereditary myelinopathies. We investigated for mutations at the EGR2 gene a patient with severe CMT1 phenotype. Direct sequencing of EGR2 gene showed a heterozygous A T transversion at nucleotide 1064 that predicts an Asp305Val substitution within the first zinc-finger domain. The finding of a novel EGR2 mutation associated with a different phenotype confirms that peripheral neuropathies represent a continuum spectrum of related disorders due to an underlying defect in myelination.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
3/47. A family with X-linked dominant Charcot-Marie-Tooth caused by a connexin32 mutation.A family with a hereditary peripheral neuropathy is presented. pedigree analysis suggested X-linked dominant mode of inheritance. The index patient became symptomatic at the age of 12 years. Clinical examination at 14 years revealed footdrop on the left, bilateral pes cavus, slight atrophy of thenar eminences, decreased muscle strength in both legs and brisk deep tendon reflexes. Electrophysiological studies were compatible with an axonal neuropathy. A novel point mutation located in codon 126 of the connexin32 gene, substituting a histidine for a tyrosine, was found in the index patient, in the mother, in two sisters and in a brother. The mother and the eldest sister had pes cavus bilaterally although they were asymptomatic. The younger brother and sister showed no signs of the disease.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
4/47. New syndrome: clavicle hypoplasia, facial dysmorphism, severe myopia, single central incisor and peripheral neuropathy.A new syndrome of unknown origin is reported, consisting of facial dysmorphism (upward slanted palpebral fissures, single superior central incisor, narrow, cylindrical nose with hypoplastic alae), bilateral agenesis of the clavicles, limited movements of elbow and fingers, calf atrophy and pes cavus with abolished reflexes (Charcot-Marie-Tooth syndrome, unspecified type).- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
5/47. Inherited early onset severe axonal polyneuropathy with respiratory failure and autonomic involvement.We report dizygotic twins who first presented at the age of 6 months with severe diaphragmatic weakness and marked abnormalities of autonomic function. A female sibling had earlier died from a disorder with similar clinical features. Both twins had a severe axonal polyneuropathy with generalized hypotonic limb weakness together with diaphragmatic paralysis resulting in respiratory failure. Associated features were tachycardia, increased sweating, elevated body temperature, and hypertension, suggesting autonomic dysfunction. Nerve conduction studies indicated an axonopathy affecting both motor and sensory nerve fibres. sural nerve biopsy in one twin performed at the age of 7 months showed a reduced population of myelinated nerve fibres, particularly those of larger diameter, with no indication of hypomyelination, demyelination or axonal atrophy. Examples of axonal forms of hereditary motor and sensory neuropathy (HMSN) with onset in infancy are very rare and autonomic involvement associated with this condition has not so far been described.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
6/47. Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene.Two sibs with charcot-marie-tooth disease had repeated episodes of generalized weakness. The patients had distal weakness and atrophy as well as findings of CNS involvement on brain MRI. Both patients bear the C164T mutation of the connexin 32 gene but no mutations of the genes responsible for hyper- or hypokalemic periodic paralysis. It is possible that both patients have one disease with complex phenotype due to abnormal expression of the connexin 32 gene.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
7/47. Myotonic pupils in charcot-marie-tooth disease. Successful relief of symptoms with 0.025% pilocarpine.Twenty-seven members of a family with dominantly inherited charcot-marie-tooth disease (CMTD) were examined. Fifteen members had CMTD and 13 of these had varying amounts of myotonic pupillary abnormalities similar in some ways to Adie tonic pupil syndrome. Those with graver neurologic disease showed greater pupillary abnormalities. Ten of the 15 patients had pupillary constriction with methacholine chloride (Mecholyl) and some of these had extensive iris atrophy. Several affected patients received symptomatic relief from 0.025% pilocarpine. Seven other patients with CMTD who were not related to our initial family were checked for myotonic pupils; two had findings similar to our initial family. Pupillary abnormalities in certain patients with CMTD appear secondary to a parasympathetic denervation of the iris sphincter and ciliary muscle, as shown by a positive methacholine test, and probably represent part of the autonomic nervous system dysfunction associated with the polyneuropathy in CMTD.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
8/47. Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.charcot-marie-tooth disease (CMT) is a clinically and genetically heterogeneous group of polyneuropathies characterized by degeneration of peripheral nerves, resulting in distal muscle atrophy, sensory loss, and deformities of hands and feet. We have studied 34 individuals in a large 84-member four-generation central illinois family with autosomal dominant Charcot-Marie-Tooth and deafness. Nerve conduction velocities are consistent with type 1 CMT. Audiological evaluation revealed both auditory neuropathy and cochlear involvement in affected individuals. There is increasing clinical severity and younger age of onset of CMT and deafness with each progressive generation, suggestive of anticipation (P < 0.05). The proband, a female diagnosed at birth with hypotonia, bilateral vocal cord palsy, swallowing incoordination, and hearing impairment, died at age 18 months. Another individual died at the age of 3 months from hypotonia later attributed to CMT. Genetic analysis indicated that affected individuals in this family do not have the common 1.4 Mb duplication associated with type 1A CMT; however, all affected individuals have a unique G to C transversion at position 248 in coding exon 3 of the peripheral myelin PMP22 gene located on chromosome 17p11.2-p12. This mutation is predicted to cause an Ala67Pro substitution in the second transmembrane domain of PMP22, consistent with the molecular cause of the CMT phenotype. However, it does not explain the cochlear component of the deafness, the clinical observation of anticipation, and other features in this family.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
9/47. A case of the Roussy-Levy syndrome family.Roussy-Levy syndrome, also known as hereditary areflexic dystasia, is a very rare genetic neuromuscular disorder that typically becomes apparent during early childhood. The disorder is characterised by inherited gait ataxia, pes cavus and areflexia which are eventually associated with distal muscle atrophy, postural tremor and minor sensory loss. We report a family whose members in three generations (grandmother, mother, daughters) were showing these clinical signs of Roussy-Levy syndrome. All of these women have displayed gait ataxia, areflexia, pes cavus and sideways curvature of the spine (kyphoscoliosis).- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
10/47. A family with charcot-marie-tooth disease and Leber's optic atrophy.A family has been studied in which members of 4 generations were affected by the hypertrophic type of charcot-marie-tooth disease. The diagnosis was confirmed by electrophysiological studies and by sural nerve biopsy. 10 members of the family, 8 males and 2 females, developed optic atrophy of acute onset with progression over a period of two to six months. The history of visual failure, its maternal inheritance, and the neuro-ophthalmological findings of optic atrophy with bilateral central scotomata were typical of Leber's optic atrophy. 2 members of the family suffered from both charcot-marie-tooth disease and Leber's optic atrophy. There have been a few previous reports of optic atrophy associated with charcot-marie-tooth disease, and in the present family both conditions appeared to have been inherited independently.- - - - - - - - - - ranking = 61.481927312546keywords = optic atrophy, atrophy, optic (Clic here for more details about this article) |
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