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Tytuł pozycji:

Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.

Tytuł:
Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.
Autorzy:
Gay S; Service de Réanimation Pédiatrique et de Médecine Néonatale, Hôpital d'Enfants, CHU, Dijon, France.
Dupuis D
Faivre L
Masurel-Paulet A
Labenne M
Colombani M
Soichot P
Huet F
Hainque B
Sternberg D
Fontaine B
Gouyon JB
Thauvin-Robinet C
Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2008 Feb 01; Vol. 146A (3), pp. 380-3.
Typ publikacji:
Case Reports; Journal Article
Język:
English
Imprint Name(s):
Publication: Hoboken, N.J. : Wiley-Blackwell
Original Publication: Hoboken, N.J. : Wiley-Liss, c2003-
MeSH Terms:
Myotonia Congenita/*genetics
Sodium Channels/*genetics
Female ; Humans ; Infant ; Infant, Newborn ; Myotonia Congenita/diagnosis ; Myotonia Congenita/etiology ; Myotonia Congenita/physiopathology ; NAV1.4 Voltage-Gated Sodium Channel
Substance Nomenclature:
0 (NAV1.4 Voltage-Gated Sodium Channel)
0 (SCN4A protein, human)
0 (Sodium Channels)
Entry Date(s):
Date Created: 20080119 Date Completed: 20080610 Latest Revision: 20220317
Update Code:
20240104
DOI:
10.1002/ajmg.a.32141
PMID:
18203179
Czasopismo naukowe
We report on a patient with a severe, rare neonatal form of non-dystrophic myotonia. The patient presented with facial dysmorphism, muscle hypertrophy, severe constipation, psychomotor delay, and frequent cold-induced episodes of myotonia and muscle weakness leading to severe hypoxia and loss of consciousness. Muscle biopsy was non-specific and electromyography revealed intense generalized myotonia. The myotonic episodes improved after introducing oral mexiletine and maintaining room temperature at 28 degrees C. The patient died at 20 months of age following a bronchopulmonary infection. A previously undescribed de novo heterozygous c.3891C > A change, which predicts p.N1297K in the SCN4A gene. Mutations within the voltage-gated sodium channel alpha-subunit gene (SCN4A) have been described in association with several phenotypes including paramyotonia congenita, hyperkalemic or hypokalemic periodic paralysis, and potassium-aggravated myotonias. The cold-sensitive episodes of stiffness followed by weakness suggested the diagnosis of channelopathy in our patient. However, her neonatal onset, the triggering of severe episodes by exposure to modest decreases in temperature, involvement of respiratory muscles with prolonged apnea, early-onset muscle hypertrophy, psychomotor retardation, and fatal outcome are evocative of a distinct clinical subtype. Our observation expands the phenotypic spectrum of sodium channelopathies.

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