Woods black norbury syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]

Synonyms and Keywords: Immunoneurologic disorder,X-linked

Overview

Woods black norbury syndrome is an X-linked dominant disease with IgG2 deficiency characterised by poor bladder function, low birth weight in males, severe neonatal hypotonia in males, complex hereditary spastic paraplegia in females, static reduced night vision and slowly progressive proximal muscle weakness.[1]

Pathophysiology

Woods black norbury syndrome is an X-linked dominant disease.[2]

Diagnosis

Symptoms

Woods black norbury syndrome is characterised by static reduced night vision.[3]

Physical findings

Genitourinary

  • poor bladder function.

Growth

  • low birth weight in males.

Neurological

  • severe neonatal hypotonia in males,
  • complex hereditary spastic paraplegia in females,
  • brisk reflexes

Muscular

  • slowly progressive proximal muscle weakness.

Laboratory findings

Woods black norbury syndrome is characterised by IgG2 deficiency.[4]

References


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