Hypotonia - Etiology of Hypotonia

Etiology of Hypotonia

Some conditions known to cause hypotonia include:

Congenital - i.e. disease a person is born with (including genetic disorders presenting within 6 months)

• Genetic disorders are the most common cause
  • Down syndrome - most common
  • 22q13 deletion syndrome
  • 3-Methylcrotonyl-CoA carboxylase deficiency
  • Achondroplasia
  • Aicardi syndrome
  • Canavan disease
  • Centronuclear myopathy (including myotubular myopathy)
  • Central core disease
  • Cohen Syndrome
  • Dejerine Sottas syndrome (HMSN Type III)
  • Familial dysautonomia (Riley-Day syndrome)
  • FG syndrome
  • Fragile X syndrome
  • Griscelli syndrome Type 1 (Elejalde Syndrome)
  • Disorder Growth Hormone Disorder Pituitary Dwarfism
  • Infantile spinal muscular atrophy such as Werdnig-Hoffman disease
  • Krabbe disease
  • Leigh's disease
  • Marfan's syndrome
  • Menkes syndrome
  • Methylmalonic acidemia
  • Myotonic dystrophy
  • Niemann-Pick disease
  • Nonketotic hyperglycinemia (NKH) or Glycine encephalopathy (GCE)
  • Prader-Willi syndrome
  • Rett syndrome
  • Septo-optic dysplasia (de Morsier syndrome)
  • Spinal Muscular Atrophy (SMA)
  • Succinic semialdehyde dehydrogenase deficiency (SSADH)
  • Tay-Sachs disease
  • Trisomy 13
  • Williams syndrome

• Developmental disability
  • Cerebellar ataxia (congenital)
  • Sensory integration dysfunction
  • Developmental dyspraxia
  • Hypothyroidism (congenital)
  • Hypotonic cerebral palsy
  • Teratogenesis from in utero exposure to Benzodiazepines