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Amyotrophie spinale

Amyotrophie spinale avec détresse respiratoire type 1

Amyotrophie spinale avec détresse respiratoire type 2

Amyotrophie spinale diaphragmatique type 2

Distale

Fazio-Londe

Forme scapulo-péronière

Kugelberg-Welander

Paralysie bulbaire progressive de l'enfant

Werdnig-Hoffman

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Translation of "Amyotrophie spinale diaphragmatique type 2 " (French → English) :

amyotrophie spinale diaphragmatique type 2

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A rare genetic motor neuron disease with characteristics of progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. The ph

SNOMEDCT-BE (disorder) / 770727008

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Progressive bulbar palsy of childhood [Fazio-Londe] Spinal muscular atrophy:adult form | childhood form, type II | distal | juvenile form, type III [Kugelberg-Welander] | scapuloperoneal form

WORLD HEALTH ORGANIZATION ICD-10: G12.1

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amyotrophie spinale avec détresse respiratoire type 1

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Autosomal recessive distal spinal muscular atrophy 1

SNOMEDCT-BE (disorder) / 711483003

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amyotrophie spinale avec détresse respiratoire type 2

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Diaphragmatic spinal muscular atrophy type 2