Biomaterial Database

[Neuromuscular diseases as a cause of neonatal respiratory insufficiency]. 1991

J Dinger, and P Lorenz

Abteilung für Neonatologie, Klinik für Kinderheilkunde, Dresden.

Neuromuscular disorder can cause neonatal respiratory insufficiency. One male term newborn with Werdnig-Hoffmann disease and two preterm infants with congenital myotonic dystrophy Curshmann-Steinert-Batten are reported. Hydramnion, few spontaneous movements, prematurity, increasing respiratory insufficiency, hypotonia and myopathic facies of the mother are typical for congenital myotonic dystrophy.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297	Male		Males
D009123	Muscle Hypotonia	A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.	Flaccid Muscle Tone,Hypotonia,Decreased Muscle Tone,Floppy Muscles,Hypomyotonia,Hypotony, Muscle,Muscle Flaccidity,Muscle Tone Atonic,Muscle Tone Poor,Muscular Flaccidity,Muscular Hypotonia,Neonatal Hypotonia,Unilateral Hypotonia,Flaccidity, Muscle,Flaccidity, Muscular,Floppy Muscle,Hypotonia, Muscle,Hypotonia, Muscular,Hypotonia, Neonatal,Hypotonia, Unilateral,Hypotonias, Neonatal,Hypotonias, Unilateral,Muscle Hypotony,Muscle Tone Atonics,Muscle Tone, Decreased,Muscle Tone, Flaccid,Muscle, Floppy,Muscles, Floppy,Muscular Flaccidities,Neonatal Hypotonias,Tone Atonic, Muscle,Tone Poor, Muscle
D009224	Myotonia Congenita	Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders.	Becker Generalized Myotonia,Myotonia, Generalized, Becker,Thomsen Disease,Batten Turner Congenital Myopathy,Batten-Turner Congenital Myopathy,Becker Disease,Congenital Myotonia,Generalized Myotonia of Becker,Generalized Myotonia of Thomsen,Myopathy, Congenital,Myotonia Congenita, Autosomal Dominant,Myotonia Congenita, Autosomal Recessive,Myotonia Levior,Myotonia, Generalized,Thomsen's Disease,Thomsens Disease,Disease, Becker,Disease, Thomsen,Disease, Thomsen's,Disease, Thomsens,Generalized Myotonia,Generalized Myotonia, Becker,Generalized Myotonias,Myotonia, Becker Generalized,Myotonias, Generalized,Thomsen Generalized Myotonia
D012131	Respiratory Insufficiency	Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide from them. (Stedman, 25th ed)	Acute Hypercapnic Respiratory Failure,Acute Hypoxemic Respiratory Failure,Hypercapnic Acute Respiratory Failure,Hypercapnic Respiratory Failure,Hypoxemic Acute Respiratory Failure,Hypoxemic Respiratory Failure,Respiratory Depression,Respiratory Failure,Ventilatory Depression,Depressions, Ventilatory,Failure, Hypercapnic Respiratory,Failure, Hypoxemic Respiratory,Failure, Respiratory,Hypercapnic Respiratory Failures,Hypoxemic Respiratory Failures,Respiratory Failure, Hypercapnic,Respiratory Failure, Hypoxemic,Respiratory Failures
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014897	Spinal Muscular Atrophies of Childhood	A group of recessive inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)	Infantile Spinal Muscular Atrophy,Juvenile Spinal Muscular Atrophy,Kugelberg-Welander Disease,Muscular Atrophy, Spinal, Infantile,Spinal Muscular Atrophy, Infantile,Spinal Muscular Atrophy, Juvenile,Werdnig-Hoffmann Disease,HMN (Hereditary Motor Neuropathy) Proximal Type I,Kugelberg-Welander Syndrome,Muscular Atrophy, Infantile,Muscular Atrophy, Juvenile,Muscular Atrophy, Spinal, Infantile Chronic Form,Muscular Atrophy, Spinal, Intermediate Type,Muscular Atrophy, Spinal, Type I,Muscular Atrophy, Spinal, Type II,Muscular Atrophy, Spinal, Type III,Proximal Hereditary Motor Neuropathy Type I,SMA, Infantile Acute Form,Spinal Muscular Atrophy 1,Spinal Muscular Atrophy Type 2,Spinal Muscular Atrophy Type I,Spinal Muscular Atrophy Type II,Spinal Muscular Atrophy Type III,Spinal Muscular Atrophy, Mild Childhood and Adolescent Form,Spinal Muscular Atrophy, Type 3,Spinal Muscular Atrophy, Type I,Spinal Muscular Atrophy, Type II,Spinal Muscular Atrophy, Type III,Type I Spinal Muscular Atrophy,Type II Spinal Muscular Atrophy,Type III Spinal Muscular Atrophy,Werdnig Hoffman Disease,Infantile Muscular Atrophy,Juvenile Muscular Atrophy,Kugelberg Welander Disease,Kugelberg Welander Syndrome,Werdnig Hoffmann Disease