GTR Home > Conditions/Phenotypes > Arthrogryposis multiplex congenita, distal, X-linked

Disease characteristics

Excerpted from the GeneReview: Spinal Muscular Atrophy, X-Linked Infantile
X-linked infantile spinal muscular atrophy (XL-SMA) is characterized by congenital hypotonia and areflexia and evidence of degeneration and loss of anterior horn cells (i.e., lower motor neurons) in the spinal cord and brain stem. Often congenital contractures and/or fractures are present. Intellect is normal. Life span is shortened because of progressive ventilatory insufficiency resulting from chest muscle involvement.

Available tests

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Check Associated genes for additional relevant tests.

Associated genes

  • Also known as: CTD-2522E6.1, A1S9, A1S9T, A1ST, AMCX1, GXP1, POC20, SMAX2, UBA1A, UBE1, UBE1X, UBA1
    Summary: ubiquitin-like modifier activating enzyme 1

Clinical features

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  • Strabismus
  • Areflexia
  • Decreased fetal movement
  • Short neck
  • Adducted thumb
  • Respiratory insufficiency due to muscle weakness
  • Gait disturbance
  • Severe muscular hypotonia
  • Arthrogryposis multiplex congenita
  • Kyphosis
  • Degeneration of anterior horn cells
  • Tongue fasciculations
  • Dolichocephaly
  • Cognitive impairment
  • Open mouth
  • Macrotia
  • Long philtrum
  • Proximal placement of thumb
  • Micrognathia
  • Single transverse palmar crease
  • Seizure
  • Myopathic facies
  • Inguinal hernia
  • Cryptorchidism
  • Hypospadias
  • Micropenis
  • Thickened nuchal skin fold
  • Ptosis
  • Narrow chest
  • Abnormality of the fingernails
  • Muscular hypotonia
  • Limitation of joint mobility
  • Abnormality of metabolism/homeostasis
  • Scoliosis
  • Multiple joint contractures
  • Short nose
  • Myopathy
  • Abnormality of the nipple
  • Hypoplasia of penis
  • Facial palsy
  • Sacrococcygeal pilonidal abnormality
  • Camptodactyly of finger
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