Hmsn
Mostrando 1-12 de 17 artigos, teses e dissertações.
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1. HMSN autossômica dominante com envolvimento proximal: novos casos brasileiros
Relatamos os casos de quatro irmãos brasileiros com Neuropatia Sensitivo Motora Hereditária com Envolvimento Proximal Dominante (HMSN-P), uma forma rara de HMSN caracterizada por fraqueza muscular de predomínio proximal e atrofia de instalação após os 30 anos, fasciculações, arreflexia, distúrbios sensitivos e padrão de herança autossômica domina
Arquivos de Neuro-Psiquiatria. Publicado em: 2009-09
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2. Linkage of autosomal dominant type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1.
Data from English families confirms the probable linkage of the loci for autosomal dominant type I hereditary motor and sensory neuropathy (HMSN) and the Duffy blood group. The locus for autosomal dominant type I HMSN is in chromosome 1 near the centromere, about 15 centimorgans from the Duffy locus. The linkage between type I HMSN and the Duffy locus and th
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3. Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy.
Three siblings are reported with childhood onset hereditary motor and sensory neuropathy (HMSN) and adult onset optic atrophy. Electrophysiological studies showed an axonal neuropathy and dysfunction of the retinal ganglion cells or optic nerve. The presumed mode of inheritance is autosomal recessive. This is the second family in which autosomal recessive in
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4. F response and somatosensory and brainstem auditory evoked potential studies in HMSN type I and II.
To evaluate conduction along the proximal and distal segments of motor and sensory long limb nerves, as well as along the very short acoustic nerve, F response and somatosensory and brainstem auditory evoked potential were studied in a series of patients with hereditary motor and sensory neuropathy (HMSN) types I and II. A diffuse and comparable slowing of c
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5. Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy.
The association between hereditary motor and sensory neuropathy (HMSN) and optic atrophy has been termed HMSN type VI. The autosomal dominant inheritance of this syndrome is reported. Three generations were affected with optic atrophy, which differed in some respects from classic dominant optic atrophy, and an asymptomatic, mainly sensory, neuropathy.
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6. Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.
We have previously shown a duplication in 17p11.2 with probe pVAW409R3 (D17S122) in 12 families with hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth disease type 1 (CMT1). In this study we aimed to estimate the size of the duplication using additional polymorphic DNA markers located in 17p11.2-p12. Two other 17p11.2 markers, pV
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7. Diaphragmatic weakness in hereditary motor and sensory neuropathy.
Six patients severely affected by hereditary motor and sensory neuropathy (HMSN), four type I and two type II, had clinical evidence of diaphragmatic weakness. One presented with cardiorespiratory failure secondary to nocturnal hypoventilation, and three others were unable to lie flat because of dyspnoea. Diaphragmatic paralysis should be considered as a cau
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8. Detection of hereditary motor sensory neuropathy type I in childhood.
Clinical signs and slowed motor nerve conduction velocities were found in 17 of 36 children under 10 years of age who had one parent with hereditary motor sensory neuropathy type I (HMSN I). Four children had slowed conduction velocities at one year or less. Clinical signs were subtle and included pes planus, distal foot wasting, weakness of ankle eversion a
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9. Central motor conduction in a family with hereditary motor and sensory neuropathy with pyramidal signs (HMSN V).
Two generations of a family affected by hereditary motor and sensory neuropathy with pyramidal signs (HMSN V) were clinically and electrophysiologically examined. Apart from electroneurographic studies, the central motor conduction (CMC) to arm and leg muscles was assessed using magnetic transcranial motor cortex stimulation. Abnormal CMC was confined to the
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10. Genetic aspects of hereditary motor and sensory neuropathy (types I and II)
The genetic features of a series of 227 patients with hereditary motor and sensory neuropathy (HMSN) have been analysed. The series comprised 119 index cases from 110 families in which 108 affected relatives were identified. The cases were classified as having type I or type II HMSN on the basis of nerve conduction studies. Inheritance in the type I cases wa
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11. Autosomal recessive forms of hereditary motor and sensory neuropathy.
Six families are described with hereditary motor and sensory neuropathy (HMSN) of probable autosomal recessive inheritance. Four of these were classified as HMSN type I and two as type II. The consanguinity rate in this series was high, suggesting that these recessive genes are rare. In comparison with the dominantly inherited forms of these disorders, the m
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12. Peroneal muscular atrophy with pyramidal features.
Twenty-five cases of peroneal muscular atrophy with pyramidal features from 15 families are described. This disorder has been referred to as hereditary motor and sensory neuropathy (HMSN) type V by Dyck. Onset was usually in the first two decades of life with difficulty in walking. The clinical syndrome superficially resembled that of HMSN types I and II wit