Create issue ticket

3,815 Possible Causes for Muscle Hypotonia, Muscular Atrophy, UDP-GlcNAc Decreased

  • Immunodeficiency Type 23

    Impaired function of PGM3 is demonstrated by decreased enzyme activity, reduced UDP-GlcNAc and reduced N-linked glycosylation and O-linked glycosylation [4] PGM3 is composed[] The following genes are required for Invitae carrier screening and will be added to your order, CFTR (cystic fibrosis), SMN1 (spinal muscular atrophy), FMR1 (fragile X syndrome[] Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyporeflexia[]

  • Motor Neuron Disease

    Some MNDs, such as ALS and some forms of spinal muscular atrophy, are fatal.[] Loss of lower motor neurons causes denervation atrophy of muscle, manifested by severe hypotonia, weakness, and inability to breathe.[] Symptoms may include hypotonia (severely reduced muscle tone), diminished limb movements, lack of tendon reflexes, fasciculations, tremors, swallowing and feeding difficulties[]

    Missing: UDP-GlcNAc Decreased
  • Congenital Muscular Dystrophy

    The objectives of this study were to determine the effects that routine daily home air-stacking maneuvers have on pulmonary function in patients with spinal muscular atrophy[] Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth.[] atrophy, forms of Ehlers-Danlos syndrome, and Marfan syndrome (see these terms).[]

    Missing: UDP-GlcNAc Decreased
  • Celiac Disease

    atrophy Headache Hypertransaminasemia Anemia Pubertal delay Extraintestinal symptoms A tendency towards lower clinical manifestations can be observed as age increases[ 4[] The child has failure to thrive , apathy, anorexia, pallor, generalized hypotonia, abdominal distention, and muscle wasting.[] […] irritable bowel syndrome Malnutrition Iron deficiency Iron deficiency Bloating Abdominal pain Constipation Vomiting Dyspepsia Osteoporosis Irritability Growth delay Arthritis Muscular[]

    Missing: UDP-GlcNAc Decreased
  • Spinal Muscular Atrophy

    […] muscle atrophy survival motor neuron spinal muscular atrophy spinal muscular atrophies of childhood Spinal muscular atrophy Statements spinal-muscular-atrophy-pro Identifiers[] The child presented at two months of life with intense muscle weakness affecting predominantly proximal portions of the limbs, especially the legs, muscle hypotonia, fasciculation[] The proband presented with childhood-onset of diffuse muscle atrophy and hypotonia. He also had diffuse weakness with greater proximal than distal involvement.[]

    Missing: UDP-GlcNAc Decreased
  • Adult Spinal Muscular Atrophy

    […] spinal muscular atrophy and juvenile asymmetric segmental spinal muscular atrophy.[] Ocular and facial muscles and cerebral function are preserved. There may be deformities of limbs/joints at birth from in utero hypotonia.[] Spinal muscular atrophies of childhood Spinal muscular atrophy Spinal muscular atrophy Spinal muscular atrophy Spinal muscular atrophy Spinal muscular atrophy Spinal muscular[]

    Missing: UDP-GlcNAc Decreased
  • Spinal Muscular Atrophy Type 3

    Spinal muscular atrophies (SMAs) are neurodegenerative disorders caused by mutations in the survival motor neuron 1 (SMN1) gene.[] They have severe, progressive muscle weakness and flaccid or reduced muscle tone (hypotonia).[] Best practice guidelines for molecular analysis in spinal muscular atrophy. Eur J Hum Genet. 2001;9(7):484-91. D'Amico A, et al. Spinal muscular atrophy.[]

    Missing: UDP-GlcNAc Decreased
  • Spinal Muscular Atrophy Type 1

    Spinal muscular atrophies are a group of neurodegenerative disorders in which genetic mutations lead to progressive damage of motor neurons in the spinal cord.[] Without treatment, symptoms of SMA1 become apparent before 6 months of age and include worsening muscle weakness and poor muscle tone ( hypotonia ) due to loss of the lower[] J Genet Disor Genet Rep 5:3. doi: 10.4172/2327-5790.1000137 Abstract Spinal muscular atrophy (SMA) is an autosomal recessive disease with progressive hypotonia and muscle[]

    Missing: UDP-GlcNAc Decreased
  • Myoadenylate Deaminase Deficiency

    The diagnoses in the 13 patients were: polyneuropathy (n 5), infantile spinal muscular atrophy (n 3), congenital myopathy with type 2 fibre atrophy, facioscapulohumeral myopathy[] We report a 6-month-old girl with the association of congenital muscle weakness and hypotonia, muscle deficiency of adenosine monophosphate… CONTINUE READING[] He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy.[]

    Missing: UDP-GlcNAc Decreased
  • Singleton Merten Syndrome

    Atrophy, Scapuloperoneal OMIM:183020 Spinal Muscular Atrophy, Segmental OMIM:253400 Spinal Muscular Atrophy, Type III; SMA3 OMIM:253550 Spinal Muscular Atrophy, Type II;[] Other findings may include neurologic problems, generalized short stature, muscle weakness; poor muscle tone ( hypotonia ); progressive wasting of the muscles ( muscle atrophy[] Other findings may include neurologic problems, generalized short stature, muscle weakness; poor muscle tone (hypotonia); progressive wasting of the muscles (muscle atrophy[]

    Missing: UDP-GlcNAc Decreased

Similar symptoms