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39 Result(s)

ORPHA:209335   (Disorder)   Autosomal dominant adult-onset proximal spinal muscular atrophy

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Synonym(s) : Autosomal dominant late-onset spinal muscular atrophy, Finkel type

ORPHA:363447   (Disorder)   Autosomal dominant childhood-onset proximal spinal muscular atrophy

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Synonym(s) : Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy

ORPHA:1216   (Disorder)   Autosomal dominant congenital benign spinal muscular atrophy

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Synonym(s) : Congenital nonprogressive spinal muscular atrophy ; Autosomal dominant benign distal spinal muscular atrophy ; Congenital benign spinal muscular atrophy with contractures

ORPHA:140465   (Group of disorders)   Autosomal dominant distal hereditary motor neuropathy

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Synonym(s) : Autosomal dominant distal spinal muscular atrophy

ORPHA:140468   (Group of disorders)   Autosomal recessive distal hereditary motor neuropathy

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Synonym(s) : Autosomal recessive distal spinal muscular atrophy

ORPHA:206580   (Disorder)   Autosomal recessive lower motor neuron disease with childhood onset

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Synonym(s) : Autosomal recessive distal spinal muscular atrophy type 4

ORPHA:363454   (Subtype of disorder)   BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy

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Synonym(s) : BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures

ORPHA:206701   (Group of disorders)   Bulbospinal muscular atrophy

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ORPHA:206707   (Group of disorders)   Bulbospinal muscular atrophy of adult

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ORPHA:206704   (Group of disorders)   Bulbospinal muscular atrophy of childhood

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ORPHA:209341   (Subtype of disorder)   DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy

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Synonym(s) : DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy

ORPHA:53739   (Group of disorders)   Distal hereditary motor neuropathy

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Synonym(s) : Distal spinal muscular atrophy

ORPHA:139518   (Disorder)   Distal hereditary motor neuropathy type 1

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Synonym(s) : Autosomal dominant distal juvenile spinal muscular atrophy type 1

ORPHA:139525   (Disorder)   Distal hereditary motor neuropathy type 2

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Synonym(s) : Distal spinal muscular atrophy type 2

ORPHA:139536   (Disorder)   Distal hereditary motor neuropathy type 5

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Synonym(s) : Distal spinal muscular atrophy type 5

ORPHA:139589   (Disorder)   Distal hereditary motor neuropathy type 7

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Synonym(s) : Distal spinal muscular atrophy with vocal cord paralysis

ORPHA:139552   (Disorder)   Distal hereditary motor neuropathy, Jerash type

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Synonym(s) : Autosomal recessive distal spinal muscular atrophy type 2

ORPHA:139547   (Disorder)   Distal spinal muscular atrophy type 3

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Synonym(s) : Autosomal recessive distal spinal muscular atrophy type 3

ORPHA:206710   (Group of disorders)   Generalized bulbospinal muscular atrophy

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ORPHA:1145   (Disorder)   Infantile-onset X-linked spinal muscular atrophy

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Synonym(s) : X-linked spinal muscular atrophy type 2 ; Spinal muscular atrophy with arthrogryposis

ORPHA:481   (Disorder)   Kennedy disease

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Synonym(s) : X-linked spinal and bulbar muscular atrophy

ORPHA:276435   (Disorder)   Lower motor neuron syndrome with late-adult onset

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Synonym(s) : Spinal muscular atrophy, Jokela type

ORPHA:70   (Disorder)   Proximal spinal muscular atrophy

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Keyword(s) : 5q spinal muscular atrophy

ORPHA:83330   (Subtype of disorder)   Proximal spinal muscular atrophy type 1

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Synonym(s) : Infantile spinal muscular atrophy

ORPHA:83418   (Subtype of disorder)   Proximal spinal muscular atrophy type 2

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Synonym(s) : Chronic spinal muscular atrophy ; Intermediate spinal muscular atrophy ; Chronic infantile spinal muscular atrophy

ORPHA:83419   (Subtype of disorder)   Proximal spinal muscular atrophy type 3

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Synonym(s) : Juvenile spinal muscular atrophy

ORPHA:83420   (Subtype of disorder)   Proximal spinal muscular atrophy type 4

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Synonym(s) : Spinal muscular atrophy, adult form

ORPHA:98920   (Disorder)   Spinal muscular atrophy with respiratory distress type 1

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Synonym(s) : Diaphragmatic spinal muscular atrophy ; Autosomal recessive distal spinal muscular atrophy type 1 ; Autosomal recessive spinal muscular atrophy with respiratory distress

ORPHA:404521   (Disorder)   Spinal muscular atrophy with respiratory distress type 2

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Synonym(s) : Diaphragmatic spinal muscular atrophy type 2 ; X-linked spinal muscular atrophy with respiratory distress

ORPHA:404538   (Group of disorders)   X-linked distal hereditary motor neuropathy

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Synonym(s) : X-linked distal spinal muscular atrophy

ORPHA:314485   (Disorder)   Young adult-onset distal hereditary motor neuropathy

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Synonym(s) : Autosomal recessive distal spinal muscular atrophy type 5