Motor Neurone Disease

Gene: UBA1

Red List (low evidence)

X-linked infantile spinal muscular atrophy (XL-SMA) is characterised by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures (arthrogryposis), associated with loss of anterior horn cells and infantile death. More than 10 families reported, functional data. Better included in Peripheral Neuropathy panels due to congenital onset.

Created: 28 Sep 2020, 4:31 a.m. | Last Modified: 28 Sep 2020, 4:31 a.m.

Panel Version: 0.81

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830

Publications

• 18179898
• 32181232
• 31932168
• 29034082
• 27699224
• 26028276
• 23518311

Green List (high evidence)

Five families reported. Children with XL-SMA usually die from respiratory failure by age two years; however, the age at death ranges from the neonatal period to adolescence, the latter in those exceptional cases in which extensive respiratory and medical support are provided (genereviews).

Created: 23 Mar 2020, 4:46 a.m. | Last Modified: 23 Mar 2020, 4:46 a.m.

Panel Version: 0.6

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Spinal muscular atrophy, X-linked 2, infantile MIM#301830

Publications

• 18179898