Neonatal hypotonia is frequently observed with a highly variable clinical presentation. [ncbi.nlm.nih.gov]

Whereas the previous section described typical presentations by anatomical location, this section focuses on clinical presentations by etiology. [obgynkey.com]

• Fatigue

  […] cause peripheral hypotonia include: muscular dystrophy – a group of genetic conditions that gradually cause the muscles to weaken, leading to increasing but variable levels of disability myasthenia gravis – a condition that causes weakness and increased fatigue [nhs.uk]

  For example, transitory neonatal myasthenia may be suspected if the mother displays fatiguability of the eyelids with upward gaze or fatiguability of the arms with sustained forward extension. [ncbi.nlm.nih.gov]

  Disorders that disrupt signals between nerves and muscles Myasthenia gravis: in adults, myasthenia gravis causes weakness and increased fatigue rather than hypotonia. [your.md]

  They may get tired easily and with fatigue movements become more labored and clumsy. Children with hypotonia may struggle in the classroom setting, despite their cognitive abilities. [blog.dinopt.com]

• Pneumonia

  […] may be primarily supportive, such as mechanical assistance with basic life functions like breathing and feeding, physical therapy to prevent muscle atrophy and maintain joint mobility, and measures to try to prevent opportunistic infections such as pneumonia [en.wikipedia.org]

• Macrocephaly

  Family history Compose a full family tree Illness in family, especially neuromuscular and in mother Consanguinity Stillbirths Examination Perform a full examination (as you would for a '1st day check'), particularly looking for: micro/macrocephaly tone [fastbleep.com]

  […] pages/fragile_x.htm Genetic defect: expansion of trinucleotide repeat (CGG) on X chromosome Hypotonia is mild and kids are usually diagnosed after failure to meet developmental milestones Characteristic features: mental retardation, autistic features, macrocephaly [pedclerk.bsd.uchicago.edu]

  Kyphoscoliosis, macrocephaly, and various foot deformities have been described. CT scans of the brain may show generalized cerebral atrophy and a hypoplastic corpus callosum. [disorders.eyes.arizona.edu]

  Peripheral Causes of Hypotonia Signs of central nervous system involvement Encephalopathy Seizures Dysmorphic features Micro- or macrocephaly Brisk deep tendon reflexes Signs of peripheral nervous system involvement Muscle weakness Diminished deep tendon [clinicaladvisor.com]

• Small Hand

  Maternal UPD 14 is characterized by neonatal hypotonia, prenatal and postnatal growth retardation, small hands and feet, feeding difficulties and precocious puberty. [allelediagnostics.com]

  Prader-Willi syndrome presents with severe neonatal hypotonia; severe feeding problems leading to failure to thrive; small hands and feet; and, in boys, small penis, small testicles, and cryptorchidism. [physiotherapy-treatment.com]

• Psychomotor Retardation

  Systemic Features: Newborns are hypotonic and severe psychomotor retardation is evident a few months later. Truncal ataxia and progressive lower limb spasticity are seen later. [disorders.eyes.arizona.edu]

• Global Developmental Delay

  Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. Am J Hum Genet. 2018 ;103(5):794-807. [hgsc.bcm.edu]

  Developmental delay Difficulty with hand eye coordination Prefer to observe rather than participate Low frustration tolerance with physically challenging tasks Differential Diagnosis It is important to rule out any potential underlying etiology that [blog.dinopt.com]

[…] information as to brain function, useful clinically if seizures suspected Genetics review if dysmorphic features, consider molecular karyotype and DNA methylation studies or FISH for Prader-Willi syndrome (if indicated) Congenital infection screen Metabolic workup [adhb.govt.nz]

Additional workup can include genetic (karyotype, single nucleotide polymorphism microarray, exome) and metabolic evaluation (electrolytes, liver function, ammonia, serum amino acids, urine organic acids, lactate, pyruvate, and acylcarnitine). [n.neurology.org]

The object of this chapter is to offer a rational approach to the diagnostic workup of the hypotonic infant. [obgynkey.com]

Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

Early intervention and treatment is absolutely vital to allow the baby as much “catch up” time as possible. [cdadc.com]

Treatment of Hypotonia The test results will be very important because through it, the specialist will know what caused the Hypotonia and from there they will know how to go about the treatment. [birthinjurylawyernetwork.com]

Treatment The recommended treatment plan for hypotonia (decreased muscle tone) will depend on the underlying cause. Hypotonia that is caused by a baby being born prematurely will usually improve as the baby gets older. [your.md]

Identification of the cause is essential for determining prognosis, associated morbidities, and recurrence risk. The prevailing therapeutic modality is physical, occupational, speech/feeding, and respiratory therapy. Copyright © 2015 Elsevier Inc. [ncbi.nlm.nih.gov]

Identification of the cause is essential for determining prognosis, associated morbidities, and recurrence risk. The prevailing therapeutic modality is physical, occupational, speech/feeding, and respiratory therapy. [readbyqxmd.com]

Management & Prognosis Specific treatment will vary depending on the underlying cause. [fastbleep.com]

Prognosis No apparent life-threatening organic abnormalities accompany the diagnosis of monosomy 22q 13. The documents contained in this web site are presented for information purposes only. [orpha.net]

ETIOLOGY OF HYPOTONIA BASED ON ANATOMICAL LOCALIZATION In this section, we examine in more detail the most common etiologies of congenital hypotonia. [obgynkey.com]

In this retrospective study, the etiologies of neonates presenting with hypotonia were reviewed. The majority of patients had a genetic or metabolic etiology of their hypotonia. [clinicaladvisor.com]

Conclusion: In our study "central hypotonia" was most prevalent etiology of hypotonia. [pjms.com.pk]

A detailed clinical history associated to a careful neurological evaluation present a high diagnostic predictive value that should guide the etiological investigation. [ncbi.nlm.nih.gov]

Diagnostic methods The diagnosis of monosomy 22q13 syndrome should be considered in all cases of hypotonia of unknown etiology and in individuals with absent speech. [orpha.net]

Summary Epidemiology Due to lack of clinical recognition and often insufficient laboratory testing, the syndrome is underdiagnosed and its true incidence remains unknown. [orpha.net]

EPIDEMIOLOGY There are no studies that have looked at the incidence or prevalence of neonatal hypotonia. [obgynkey.com]

Epidemiology Frequency International The true incidence of congenital myopathies is unknown. [emedicine.medscape.com]

Although the pathophysiology of the hypotonia is not well defined, it is useful to think of it in the context of a cerebral energy crisis. [obgynkey.com]

Neonatology: Pathophysiology and Management, 4th ed. Philadelphia, JB Lippincot Company 1994;1174-6. 11. Birdi K, Prasad AN, Prasad C, Chodivker B, Chudlog. [pjms.com.pk]

Pathophysiology In the common, well-described congenital myopathies, mutations have been identified in genes that encode for muscle proteins. [emedicine.medscape.com]

Principles of management C Physiotherapy e stretches aimed at prevention of contractures C Occupational therapy - appliances, improvement of posture and function, facilitating activities of daily living C Prevention and correction of scoliosis C Evaluation [docsity.com]

Note that only the last three are definitely lifelong disorders, and that many of the listed problems are preventable. Neonatal hypotonia is not terribly common. [cdadc.com]

It notes that neonate development and neurologic examination should be well-attended by the veterinarian to prevent neonate disease progression. It points out that the... [connection.ebscohost.com]

In very severe cases, treatment may be primarily supportive, such as mechanical assistance with basic life functions like breathing and feeding, physical therapy to prevent muscle atrophy and maintain joint mobility, and measures to try to prevent opportunistic [en.wikipedia.org]

Management General measures Although no drug therapy is currently available for the treatment of BCH, children benefit from treatment with physiotherapy to help both active and passive movements in order to optimise muscle strength and prevent the development [patient.info]