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141 Possible Causes for Neonatal Hypotonia and Later

  • Muscular Dystrophy

    The differential diagnosis of neonatal hypotonia includes SMA, CMD, and congenital myopathy.[neuropathology-web.org] The muscle biopsy shows nonspecific findings, initially myofiber atrophy and later myofiber loss with fibrosis and fat replacement.[neuropathology-web.org]

  • Transient Familial Neonatal Hyperbilirubinemia

    […] will exhibit these features Acute phase: stupor, hypotonia, poor suck few days later - opisthotonus and retrocollis few days later - hypotonia can be accompanied by fever[emilytam.com] […] hypothyroidism infant of diabetic mother East Asian/Mediterranean descent excessive bleeding in the newbord period Clinical features clinical features are well defined, but not all neonates[emilytam.com]

  • Multiple Carboxylase Deficiency

    Most present in the neonatal period with vomiting, ketoaciduria, lactic acidosis, convulsions and hypotonia, leading to coma and death if untreated.[sas-centre.org] Some patients present later and have alopecia and an erythematomous rash.[sas-centre.org]

  • Laron Syndrome with Immunodeficiency

    Neoplasm Central hypotonia Eversion of lateral third of lower eyelids Abnormality of the breast Prominent fingertip pads Long hallux Sparse lateral eyebrow Short 5th finger[mendelian.co] Depressed nasal tip Short columella Neonatal hypoglycemia Long palpebral fissure Hypoglycemic seizures Atrioventricular canal defect Cupped ear Long eyelashes Recurrent otitis[mendelian.co] […] dystrophy Cerebral atrophy Blindness Hypoplasia of the corpus callosum Optic atrophy Abnormality of the endocrine system Abnormality of the skull Self-injurious behavior Facial hypotonia[mendelian.co]

  • Fetal Trauma

    The neonate can present with hypotonia, quadriplegia or paraplegia; plain radiographs, ultrasound and MRI can aid diagnosis [ 19 ].[ncbi.nlm.nih.gov] A lateral radiograph of the spine should be obtained to demonstrate vertebral fracture/subluxation.[ncbi.nlm.nih.gov]

  • Organic Aciduria

    Clinical presentation may be during the neonatal period, or later.[degruyter.com] Typical signs and symptoms are respiratory distress, generalized hypotonia, feeding refusal, vomiting, lethargy, seizure, and coma.[degruyter.com] Neonatal-onset classic organic acidurias usually present as severe metabolic acidosis and encephalopathy shortly after birth.[degruyter.com]

  • Limb-Girdle Muscular Dystrophy Type 1E

    The differential diagnosis of neonatal hypotonia includes SMA, CMD, and congenital myopathy.[neuropathology-web.org] The muscle biopsy shows nonspecific findings, initially myofiber atrophy and later myofiber loss with fibrosis and fat replacement.[neuropathology-web.org]

  • Emery-Dreifuss Muscular Dystrophy Type 1

    The differential diagnosis of neonatal hypotonia includes SMA, CMD, and congenital myopathy.[neuropathology-web.org] The muscle biopsy shows nonspecific findings, initially myofiber atrophy and later myofiber loss with fibrosis and fat replacement.[neuropathology-web.org]

  • Oculo-Pharyngo-Distal Myopathy

    A neonatal form, also known as myotubular myopathy, presents with severe hypotonia and weakness at birth.[clinicalgate.com] Later, difficulty with running and stair climbing becomes apparent. A marfanoid, slender body habitus, long narrow face, and high-arched palate are typical.[clinicalgate.com]

  • Limb-Girdle Muscular Dystrophy

    […] to 50 years; Typical 5 to 10 years Weakness: Difficulty climbing stairs & running Neonatal onset: Hypotonia; Rapid progression Weakness Common: Limb-Girdle; Mild Proximal[neuromuscular.wustl.edu] Symmetric Legs Arms Distal: Ankles Eyes: Up & Lateral movements limited in more severe patients No muscle hypertrophy or clinical myotonia Progression Common: Very slow or[neuromuscular.wustl.edu] & form vacuoles Disease mechanism Macroautophagic overcompensation: Leads to cell vacuolation & tissue atrophy Clinical: Similar patterns among families Onset Age: Range Neonatal[neuromuscular.wustl.edu]

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