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Benign congenital hypotonia

MedGen UID:
473075
•Concept ID:
C0343239
•
Disease or Syndrome
Synonym: Benign Congenital Hypotonia
SNOMED CT: Benign congenital hypotonia (240080003)

Definition

Mild hypotonia that usually appears early in infancy and has a favorable outcome. It is not a manifestation of another disorder that may cause hypotonia (e.g., cerebral palsy or muscular dystrophy). [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBenign congenital hypotonia

Recent clinical studies

Etiology

Congenital hypotonia with favorable outcome.
Carboni P, Pisani F, Crescenzi A, Villani C
Pediatr Neurol 2002 May;26(5):383-6. doi: 10.1016/s0887-8994(02)00379-x. PMID: 12057800
Developmental correlates of school-age children with a history of benign congenital hypotonia.
Parush S, Yehezkehel I, Tenenbaum A, Tekuzener E, Bar-Efrat/Hirsch I, Jessel A, Ornoy A
Dev Med Child Neurol 1998 Jul;40(7):448-52. doi: 10.1111/j.1469-8749.1998.tb15394.x. PMID: 9836881
Benign congenital hypotonia. A clinical study in 43 children.
Shuper A, Weitz R, Varsano I, Mimouni M
Eur J Pediatr 1987 Jul;146(4):360-4. doi: 10.1007/BF00444937. PMID: 3653132
Benign congenital hypotonia with uniform type 1 fibers and aspecific ultrastructural changes in the muscle: a case with esophagus involvement.
Spagnoli LG, Palmieri G, Bertini E
Ital J Neurol Sci 1985 Sep;6(3):317-21. doi: 10.1007/BF02232009. PMID: 2933366

Diagnosis

Hypotonia, congenital hearing loss, and hypoactive labyrinths.
Bodensteiner JB, Smith SD, Schaefer GB
J Child Neurol 2003 Mar;18(3):171-3. doi: 10.1177/08830738030180030701. PMID: 12731641
Congenital hypotonia with favorable outcome.
Carboni P, Pisani F, Crescenzi A, Villani C
Pediatr Neurol 2002 May;26(5):383-6. doi: 10.1016/s0887-8994(02)00379-x. PMID: 12057800
Developmental correlates of school-age children with a history of benign congenital hypotonia.
Parush S, Yehezkehel I, Tenenbaum A, Tekuzener E, Bar-Efrat/Hirsch I, Jessel A, Ornoy A
Dev Med Child Neurol 1998 Jul;40(7):448-52. doi: 10.1111/j.1469-8749.1998.tb15394.x. PMID: 9836881
Predictive value of electromyography in diagnosis and prognosis of the hypotonic infant.
Russell JW, Afifi AK, Ross MA
J Child Neurol 1992 Oct;7(4):387-91. doi: 10.1177/088307389200700410. PMID: 1469246
Benign congenital hypotonia. A clinical study in 43 children.
Shuper A, Weitz R, Varsano I, Mimouni M
Eur J Pediatr 1987 Jul;146(4):360-4. doi: 10.1007/BF00444937. PMID: 3653132

Prognosis

Hypotonia, congenital hearing loss, and hypoactive labyrinths.
Bodensteiner JB, Smith SD, Schaefer GB
J Child Neurol 2003 Mar;18(3):171-3. doi: 10.1177/08830738030180030701. PMID: 12731641
Congenital hypotonia with favorable outcome.
Carboni P, Pisani F, Crescenzi A, Villani C
Pediatr Neurol 2002 May;26(5):383-6. doi: 10.1016/s0887-8994(02)00379-x. PMID: 12057800
Developmental correlates of school-age children with a history of benign congenital hypotonia.
Parush S, Yehezkehel I, Tenenbaum A, Tekuzener E, Bar-Efrat/Hirsch I, Jessel A, Ornoy A
Dev Med Child Neurol 1998 Jul;40(7):448-52. doi: 10.1111/j.1469-8749.1998.tb15394.x. PMID: 9836881
Predictive value of electromyography in diagnosis and prognosis of the hypotonic infant.
Russell JW, Afifi AK, Ross MA
J Child Neurol 1992 Oct;7(4):387-91. doi: 10.1177/088307389200700410. PMID: 1469246
Benign congenital hypotonia. A clinical study in 43 children.
Shuper A, Weitz R, Varsano I, Mimouni M
Eur J Pediatr 1987 Jul;146(4):360-4. doi: 10.1007/BF00444937. PMID: 3653132

Clinical prediction guides

Congenital hypotonia with favorable outcome.
Carboni P, Pisani F, Crescenzi A, Villani C
Pediatr Neurol 2002 May;26(5):383-6. doi: 10.1016/s0887-8994(02)00379-x. PMID: 12057800
Predictive value of electromyography in diagnosis and prognosis of the hypotonic infant.
Russell JW, Afifi AK, Ross MA
J Child Neurol 1992 Oct;7(4):387-91. doi: 10.1177/088307389200700410. PMID: 1469246
Benign congenital hypotonia with uniform type 1 fibers and aspecific ultrastructural changes in the muscle: a case with esophagus involvement.
Spagnoli LG, Palmieri G, Bertini E
Ital J Neurol Sci 1985 Sep;6(3):317-21. doi: 10.1007/BF02232009. PMID: 2933366

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