Literature DB >> 7420092

Hereditary distal spinal muscular atrophy with vocal cord paralysis.

I D Young, P S Harper.   

Abstract

A large kindred is described in which an unusual form of spinal muscular atrophy is segregating in an autosomal dominant manner. The disease presents most commonly in the teens with small muscle wasting in the hands, particularly involving median nerve musculature. Subsequently distal muscle wasting and weakness occur in the lower limbs. Vocal cord paralysis is a characteristic and potentially hazardous feature. No previous report of this condition has been found.

Entities:  

Mesh:

Year:  1980        PMID: 7420092      PMCID: PMC490568          DOI: 10.1136/jnnp.43.5.413

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN: 0022-3050            Impact factor:   10.154


  13 in total

1.  Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies.

Authors:  P J Dyck; E H Lambert
Journal:  Arch Neurol       Date:  1968-06

2.  Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity.

Authors:  P K Thomas; D B Calne
Journal:  J Neurol Neurosurg Psychiatry       Date:  1974-01       Impact factor: 10.154

3.  Familial laryngeal abductor paralysis and psychomotor retardation.

Authors:  G V Watters; N Fitch
Journal:  Clin Genet       Date:  1973       Impact factor: 4.438

4.  A new genetic variant of the spinal muscular atrophies in infancy.

Authors:  H Zellweger; E Hanhart; H J Schneider
Journal:  J Med Genet       Date:  1972-12       Impact factor: 6.318

5.  Distal type of chronic spinal muscular atrophy. Clinical, electrophysiological and pathological studies.

Authors:  J G McLeod; J W Prineas
Journal:  Brain       Date:  1971       Impact factor: 13.501

6.  Chronic spinal muscular atrophy in adults. 2. Other forms.

Authors:  J C Meadows; C D Marsden; D G Harriman
Journal:  J Neurol Sci       Date:  1969 Nov-Dec       Impact factor: 3.181

7.  A distal form of chronic spinal muscular atrophy.

Authors:  J C Meadows; C D Marsden
Journal:  Neurology       Date:  1969-01       Impact factor: 9.910

Review 8.  The nosology of the spinal muscular atrophies.

Authors:  A E Emery
Journal:  J Med Genet       Date:  1971-12       Impact factor: 6.318

9.  Peroneal muscular atrophy (PMA) and related disorders. II. Histological findings in sural nerves.

Authors:  F Behse; F Buchthal
Journal:  Brain       Date:  1977-03       Impact factor: 13.501

10.  Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations.

Authors:  P J Dyck; E H Lambert
Journal:  Arch Neurol       Date:  1968-06
View more
  8 in total

1.  Vocal cord paralysis as a presenting sign of acute spinal muscular atrophy SMA type 1.

Authors:  E Roulet; T Deonna
Journal:  Arch Dis Child       Date:  1992-03       Impact factor: 3.791

Review 2.  Clinical approach to the diagnostic evaluation of hereditary and acquired neuromuscular diseases.

Authors:  Craig M McDonald
Journal:  Phys Med Rehabil Clin N Am       Date:  2012-08       Impact factor: 1.784

3.  Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?

Authors:  E Boltshauser; W Lang; T Spillmann; E Hof
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

Review 4.  Unraveling the genetics of distal hereditary motor neuronopathies.

Authors:  Joy Irobi; Ines Dierick; Albena Jordanova; Kristl G Claeys; Peter De Jonghe; Vincent Timmerman
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

5.  The distal form of spinal muscular atrophy: an unusual case demonstrating the intermediate variety.

Authors:  D A Isenberg; P A Kahn
Journal:  Postgrad Med J       Date:  1982-09       Impact factor: 2.401

6.  Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.

Authors:  M McEntagart; N Norton; H Williams; M D Teare; M Dunstan; P Baker; H Houlden; M Reilly; N Wood; P S Harper; P A Futreal; N Williams; N Rahman
Journal:  Am J Hum Genet       Date:  2001-04-04       Impact factor: 11.025

7.  Distal spinal and bulbar muscular atrophy caused by dynactin mutation.

Authors:  Imke Puls; Shin J Oh; Charlotte J Sumner; Karen E Wallace; Mary Kay Floeter; Eric A Mann; William R Kennedy; Gwen Wendelschafer-Crabb; Alexander Vortmeyer; Richard Powers; Kimberly Finnegan; Erika L F Holzbaur; Kenneth H Fischbeck; Christy L Ludlow
Journal:  Ann Neurol       Date:  2005-05       Impact factor: 10.422

8.  Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31.

Authors:  H Feit; A Silbergleit; L B Schneider; J A Gutierrez; R P Fitoussi; C Réyès; G A Rouleau; B Brais; C E Jackson; J S Beckmann; E Seboun
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025

  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.