Literature DB >> 957378

Chronic spinal muscular atrophy of facioscapulohumeral type.

T Furukawa, Y Toyokura.   

Abstract

Chronic spinal muscular atrophy of FSH type affecting a mother and her son and daughter is reported. The relevant literature is reviewed and the relation between this conditon and Kugelberg-Welander (K-W) disease is discussed. Chronic spinal muscular atrophy of FSH type is considered to be a different entity from the eponymous K-W disease. Each type of muscular dystrophy, e.g. limb-girdle, FSH, distal, ocular, or oculopharyngeal type, has its counterpart of nuclear origin. A classification of the chronic spinal muscular atrophies is suggested following the classification of muscular dystrophy.

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Mesh:

Year:  1976        PMID: 957378      PMCID: PMC1013417          DOI: 10.1136/jmg.13.4.285

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  17 in total

1.  [PSEUDOMYOPATHIC SPINAL MUSCULAR ATROPHY. HEREDITARY NEUROGENIC PROXIMAL AMYOTROPHY OF KUGELBERG AND WELANDER].

Authors:  P E BECKER
Journal:  Z Mensch Vererb Konstitutionsl       Date:  1963-12-17

2.  Oculopharyngeal muscular dystrophy. A familial disease of late life characterized by dysphagia and progressive ptosis of the evelids.

Authors:  M VICTOR; R HAYES; R D ADAMS
Journal:  N Engl J Med       Date:  1962-12-20       Impact factor: 91.245

3.  Heredofamilial juvenile muscular atrophy simulating muscular dystrophy.

Authors:  E KUGELBERG; L WELANDER
Journal:  AMA Arch Neurol Psychiatry       Date:  1956-05

4.  Myopathia distalis juvenilis hereditaria.

Authors:  A BIEMOND
Journal:  Acta Psychiatr Neurol Scand       Date:  1955

5.  Hereditary proximal spinal muscular atrophy, a clinical entity simulating progressive muscular dystrophy.

Authors:  G WOHLFART; J FEX; S ELIASSON
Journal:  Acta Psychiatr Neurol Scand       Date:  1955

6.  [Specific type of Landouzy-Dejerine muscular dystrophy].

Authors:  P BENASSI; R CANESTRARI
Journal:  Riv Patol Nerv Ment       Date:  1953

7.  Progressive dystrophy of the external ocular muscles (ocular myopathy).

Authors:  L G KILOH; S NEVIN
Journal:  Brain       Date:  1951       Impact factor: 13.501

8.  Neurogenic muscular atrophy simulating facioscapulohumeral muscular dystrophy with particular reference to the heterogeneity of Kugelberg-Welander disease.

Authors:  T Furukawa; H Tsukagoshi; H Sugita; Y Toyokura
Journal:  J Neurol Sci       Date:  1969 Sep-Oct       Impact factor: 3.181

9.  Muscle percussion and neostigmine test in the clinical evaluation of neuromuscular disorders.

Authors:  A N Patel; R K Swami
Journal:  N Engl J Med       Date:  1969-09-04       Impact factor: 91.245

Review 10.  The nosology of the spinal muscular atrophies.

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

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  3 in total

1.  Linkage analysis in the spinal muscular atrophy type of facioscapulohumeral disease.

Authors:  T Siddique; H Roper; M A Pericak-Vance; J Shaw; K L Warner; W Y Hung; K L Phillips; P Lunt; W J Cumming; A D Roses
Journal:  J Med Genet       Date:  1989-08       Impact factor: 6.318

2.  Genetic counselling in facioscapulohumeral muscular dystrophy.

Authors:  P W Lunt; P S Harper
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

3.  A clinico-pathological study of chronic hereditary motor neuropathy.

Authors:  S Matsubara; H Tanabe
Journal:  Acta Neuropathol       Date:  1983       Impact factor: 17.088

  3 in total

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