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413 Possible Causes for Axial Hypotonia, Muscle Hypotonia

  • Propionic Acidemia

    Clinical presentation was with acute aphasia, generalized hypotonia, and muscle weakness.[ncbi.nlm.nih.gov] Neurological examination revealed axial hypotonia, severe spastic tetraparesis and extrapyramidal syndrome with numerous opisthotonos episodes daily.[kundoc.com] Symptoms may include sleeping longer or more than usual, tiredness, vomiting, poor appetite, and weak muscle tone (hypotonia).[diseaseinfosearch.org]

  • Pyruvate Carboxylase Deficiency

    They experience neurological problems including weak muscle tone ( hypotonia ), abnormal movements, seizures, and coma.[en.wikipedia.org] Abstract A six-day-old girl was referred for severe hepatic failure, dehydratation, axial hypotonia, and both lactic acidosis and ketoacidosis.[ncbi.nlm.nih.gov] They experience neurological problems including weak muscle tone (hypotonia), abnormal movements, seizures, and coma.[ghr.nlm.nih.gov]

  • Cerebro-Oculo-Facio-Skeletal Syndrome Type 1

    They also exhibit a predominantly postnatal growth failure, a severe psychomotor retardation, with axial hypotonia and peripheral hypertonia and neonatal feeding difficulties[ncbi.nlm.nih.gov] […] tone ( hypotonia ), impaired reflexes, vision impairment, and involuntary eye movements.[rarediseases.info.nih.gov] […] a degenerative disorder that primarily involves the brain, eyes, and spinal cord. [1] Affected individuals have mild to severe intellectual disability, severely reduced muscle[rarediseases.info.nih.gov]

  • Aicardi's Syndrome

    Other features of Aicardi syndrome may include a small head (microcephaly), decreased muscle tone (axial hypotonia), missing eyes (anophthalmia), gastrointestinal difficulties[diseaseinfosearch.org] […] or “low muscle tone” is most common).[infantilespasmsproject.org] Musculoskeletal abnormalities manifesting in this syndrome are scoliosis, small hands, rib and vertebral anomalies, axial hypotonias and limb hypertonias.[symptoma.com]

  • Lissencephaly

    Examination identified microcephaly, axial hypotonia, pyramidal signs and ambiguous genitalia.[ncbi.nlm.nih.gov] Children who are born with lissencephaly suffer from severe motor impairment, seizures, muscle spasticity, muscle hypotonia, facial abnormalities, difficulty swallowing, abnormalities[disabilitybenefitscenter.org] Clinical and neurological examination identified microcephaly, lack of visual contact, axial hypotonia, pyramidal signs and ambiguous genitalia (impalpable gonads, phallus[scielo.br]

  • Carbamoyl Phosphate Synthetase Deficiency

    […] tone (hypotonia).[rarediseases.org] Manifestations include hyperammonemia with irritability, lethargy, headache, seizures, confusion, avoidance of high-protein meals, axial hypotonia and cognitive disability[orpha.net] […] at the expected rate (failure to thrive), avoidance of protein from the diet, inability to coordinate voluntary movements (ataxia), lethargy, vomiting, and/or diminished muscle[rarediseases.org]

  • Rigid Spine Syndrome

    MmD with External Ophthalmoplegia (less than 10 % of all affected patients): Characteristic of this subgroup is hypotonia, axial and proximal muscle weakness, hyperlaxity[mgz-muenchen.de] Showing of 42 80%-99% of people have these symptoms Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Myopathy Muscle tissue disease 0003198 Neck[rarediseases.info.nih.gov] , delayed motor development, axial muscle weakness and respiratory dysfunction.[dnatesting.uchicago.edu]

  • Congenital Hypothyroidism without Goiter

    It is characterized by weak muscle tone (hypotonia) and underdevelopment of muscles (muscle hypoplasia). Mutations in the SLC16A2 gene (also known as MCT8) cause AHDS.[secure.ssa.gov] In two generations its presence was detected in the hemizygous state in two males with neurological abnormalities including mental retardation, axial hypotonia, hypertonia[ncbi.nlm.nih.gov] Most children with this condition have weak muscle tone (hypotonia) and underdevelopment of many muscles (muscle hypoplasia).[hellodoktor.com]

  • Congenital Muscular Dystrophy

    Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth.[ncbi.nlm.nih.gov] Congenital muscular dystrophy related to lamin A/C is rare and characterized by early-onset hypotonia with axial muscle weakness typically presenting with a loss in motor[ncbi.nlm.nih.gov] Patients with RSMDl, in contrast, have more marked axial hypotonia.[healio.com]

  • Pelizaeus-Merzbacher Disease

    The difficulties with movement can include spasticity (stiff or rigid muscles), hypotonia (floppiness), choreoathetosis (extra movements) and ataxia (unsteadiness/loss of[contact.org.uk] In an eutrophic first son born at term, stridor, nystagmus-like eye movements and axial hypotonia were noted immediately after birth and pyramidal signs appeared at 2 months[ncbi.nlm.nih.gov] hypotonia appears alongside and apart from neurological signs we can mention scoliosis as well.[kattivatrends.com]

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