Treatment-resistant nephrotic syndrome generally presents in the third month of life, but albuminuria may be present from birth 1. Etiology Five monogenic mutations have been implicated in the pathogenesis of Galloway-Mowat syndrome. [radiopaedia.org]

A 26-month-old boy presented with steroid-resistant nephrotic syndrome associated with neurologic findings, including microcephaly, psychomotor retardation, and nystagmus. [go.gale.com]

Here, we show that WDR73 was present in the brain and kidney and was located diffusely in the cytoplasm during interphase but relocalized to spindle poles and astral microtubules during mitosis. [okina.univ-angers.fr]

(original magnification × 400). c Many granular casts are present with marked tubular ectasia. [ojrd.biomedcentral.com]

Continuous variables are presented as medians (ranges), and categorical variables are presented as percentages. [frontiersin.org]

• Muscle Hypotonia

  Kongenitale mikrozephalie mit maskelhypotonie und nephrotoschem syndrom [Congenital microcephaly with muscle hypotonia and the nephrotic syndrome]. Padiatire und Grenzgebiete. 1982; 21: 39-41 PubMed Google Scholar Robain O. Deonna T. [kidney-international.org]

• Visual Impairment

  Other features include, but are not limited to, hiatal hernia, seizures, dystonia, generalized hypotonia, and visual impairment. These features are variable among patients, and have overlapping presentations with other disorders. [preventiongenetics.com]

  Neurological abnormalities can include: various malformations of the brain, seizures, muscle spasms and abnormal movements (dystonia), diminished muscle tone throughout the body (generalized hypotonia), and visual impairment and abnormal eye movements [wikidoc.org]

• Visual Impairment

  Other features include, but are not limited to, hiatal hernia, seizures, dystonia, generalized hypotonia, and visual impairment. These features are variable among patients, and have overlapping presentations with other disorders. [preventiongenetics.com]

  Neurological abnormalities can include: various malformations of the brain, seizures, muscle spasms and abnormal movements (dystonia), diminished muscle tone throughout the body (generalized hypotonia), and visual impairment and abnormal eye movements [wikidoc.org]

• Periorbital Fullness

  [from OMIM] Show allHide all Abnormality of head or neck Anteverted nares Downturned corners of mouth Epicanthal fold High palate Microdontia Periorbital fullness Wide mouth Abnormality of limbs Clinodactyly of the 5th finger Abnormality of metabolism [ncbi.nlm.nih.gov]

• Seizure

  Therapy with anti-seizure (anticonvulsant) drugs may be prescribed for affected individuals who experience seizures to help prevent, reduce, or control seizures. [rarediseases.org]

• Dystonia

  Neurological abnormalities can include: various malformations of the brain, seizures, muscle spasms and abnormal movements (dystonia), diminished muscle tone throughout the body (generalized hypotonia), and visual impairment and abnormal eye movements [rarediseases.org]

• Delayed Speech and Language Development

  […] skeletal maturation Microcephaly Abnormality of the nervous system Cerebellar atrophy Cerebellar vermis atrophy Delayed ability to walk Delayed speech and language development Global developmental delay Intellectual disability Motor delay Motor stereotypy [ncbi.nlm.nih.gov]

• Poor Spontaneous Movements

  On examination, baby was found to be dysmorphic with low set bat-shaped ears [Figure 1], absent red reflex, short neck, clinodactyly with clenched hands [Figure 2], single crease, poor spontaneous movements, undescended testes, arthrogryposis (limited [jcnonweb.com]

• Spastic Quadriplegia

  The patient may develop global developmental delay and spastic quadriplegia with limited joint mobility later in the life. [jcnonweb.com]

Clinical Testing and Workup In affected infants, symptoms associated with nephrotic syndrome may become apparent within days, weeks, months, or in some cases, years after birth. [rarediseases.org]

Treatment and prognosis There is no treatment for Galloway-Mowat syndrome 1. Affected individuals may survive for one year 1. References Promoted articles (advertising) [radiopaedia.org]

OR Surgery is not the first-line treatment option for patients with [disease name]. [wikidoc.org]

Treatment with corticosteroids and/or immunosuppressive drugs has not been effective for nephrotic syndrome associated with Galloway-Mowat syndrome. [rarediseases.org]

Citation metadata Document controls Main content Abstract : Galloway-Mowat syndrome (GMS) is an autosomal recessive disorder with a poor prognosis that was first defined as a triad of central nervous system involvement, hiatal hernia, and nephrotic syndrome [go.gale.com]

Treatment and prognosis There is no treatment for Galloway-Mowat syndrome 1. Affected individuals may survive for one year 1. References Promoted articles (advertising) [radiopaedia.org]

Conclusion: GAMOS3 is a progressive renal-neurological syndrome with a poor prognosis, especially with congenital NS. Microcephaly with dysmorphic features are vital clues to further evaluate renal impairment and brain anomalies. [pubmed.ncbi.nlm.nih.gov]

OR Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%. [wikidoc.org]

Parents should talk to the physician and medical team about their child’s specific case, associated symptoms and overall prognosis. [rarediseases.org]

The etiology of GAMOS has a heterogeneous genetic contribution. Mutations in more than 10 different genes have been reported in GAMOS patients. [xenbase.org]

Etiology Five monogenic mutations have been implicated in the pathogenesis of Galloway-Mowat syndrome. WD repeat-containing protein 73 (WDR73), which is a critical scaffold component of protein-complex assembly, was the first to be identified 1,2. [radiopaedia.org]

[…] language development Global developmental delay Intellectual disability Motor delay Motor stereotypy Paroxysmal bursts of laughter Seizure Sleep disturbance Growth abnormality Decreased body weight Fetal growth restriction Growth delay Short stature Etiology [ncbi.nlm.nih.gov]

Epidemiology and Demographics Galloway-Mowat syndrome affects males and females in equal numbers. More than 70 cases have been reported in the medical literature. [wikidoc.org]

OR The pathophysiology of [disease/malignancy] depends on the histological subtype. Causes In 2014, Galloway-Mowat syndrome was shown to be caused by alterations (mutations) in the WDR73 gene in a subset of cases. [wikidoc.org]

Other primary prevention strategies include [strategy 1], [strategy 2], and [strategy 3]. Secondary Prevention There are no established measures for the secondary prevention of [disease name]. [wikidoc.org]

Therapy with anti-seizure (anticonvulsant) drugs may be prescribed for affected individuals who experience seizures to help prevent, reduce, or control seizures. [rarediseases.org]