Basilicata-Akhtar syndrome

Basilicata-Akhtar syndrome, also known as MRXSBA (Mental Retardation X-linked Syndromic with Basilicata-Akhtar), is a rare genetic disorder characterized by global developmental delay apparent from infancy.

Key Features:

• Global developmental delay apparent from infancy
• Feeding difficulties
• Hypotonia (low muscle tone)
• Poor or absent speech
• Most patients are able to walk, although they may have an unsteady gait or spasticity
• Additional findings include dysmorphic facial features and mild distal skeletal anomalies

Citations:

• [1] Characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech. Most patients are able to walk, although they may have an unsteady gait or spasticity.
• [3] Global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech.
• [13] Global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech. Most patients are able to walk, although they may have an unsteady gait or spasticity.

Note: The information provided is based on the search results and context provided.

Basilicata-Akhtar syndrome, also known as MRXSBA (Mental Retardation X-linked Syndrome, Basilicata type), is a rare genetic disorder characterized by several distinct signs and symptoms. The main symptoms of this syndrome include:

• Global developmental delay: This is apparent from infancy, indicating that the child's development is slower than usual in all areas, including physical, cognitive, and language skills [3][4][6].
• Feeding difficulties: Affected individuals often experience feeding problems, which can be a significant concern for parents and caregivers [3][4][6].
• Hypotonia: This refers to low muscle tone, which can lead to weakness and poor muscle coordination [3][4][6].

Additionally, research has identified other symptoms associated with Basilicata-Akhtar syndrome, including:

• Intellectual disabilities: Individuals with this syndrome often experience intellectual disabilities, which can range from mild to severe [5].
• Distinctive facial features: Some people with MRXSBA may have distinctive facial features, although these are not always present [5].

It's essential to note that the symptoms of Basilicata-Akhtar syndrome can vary in severity and presentation among affected individuals. If you or someone you know is suspected of having this condition, it's crucial to consult with a qualified healthcare professional for an accurate diagnosis and guidance.

References: [1] Not applicable (search results only) [2] Not applicable (search results only) [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6

Diagnostic Tests for Basilicata-Akhtar Syndrome

Basilicata-Akhtar syndrome, also known as MSL3 (Basilicata-Akhtar) Syndrome, is an ultra-rare genetic disorder caused by the mutation of the MSL3 gene. To diagnose this condition, various diagnostic tests can be employed.

• Full Gene Sequencing: This test involves analyzing the entire coding region of the MSL3 gene to identify any mutations or variations that may be associated with Basilicata-Akhtar syndrome [1][5].
• Sequence Analysis: This test is used to analyze the sequence of the MSL3 gene and identify any changes or mutations that may be present [10].
• Next-Generation Sequencing (NGS)/Massively Parallel Sequencing (MPS): This test involves analyzing the entire genome or exome to identify any genetic variations, including those associated with Basilicata-Akhtar syndrome [10].

These diagnostic tests can help confirm a diagnosis of Basilicata-Akhtar syndrome and provide valuable information for families affected by this condition.

References

[1] Context 5: Genetic tests related with Basilicata-Akhtar Syndrome ; 1, Basilicata-Akhtar syndrome: Full gene sequencing · Basilicata-Akhtar syndrome. [5] Context 11: Basilicata-Akhtar syndrome: Full gene sequencing. GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. [10] Context 10: Clinical Molecular Genetics test for Basilicata-Akhtar syndrome and using Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) offered by CEN4GEN Institute for Genomics and Molecular Diagnostics.

Basilicata-Akhtar syndrome, also known as X-linked MSL3-related disorder, is a rare genetic condition that affects both males and females. While there is no specific treatment available for this condition, research has shown promising results with the use of HDAC inhibitors.

HDAC inhibitors have been found to variably improve symptoms in individuals with Basilicata-Akhtar syndrome [5][9]. These medications work by inhibiting the activity of histone deacetylases (HDACs), which are enzymes that play a crucial role in gene expression. By blocking HDACs, HDAC inhibitors can help to modify gene expression and potentially improve symptoms.

It's essential to note that treatment with HDAC inhibitors is still considered experimental and should only be done under the guidance of a qualified healthcare professional [5][9]. Additionally, more research is needed to fully understand the effectiveness and potential side effects of this treatment approach.

In terms of specific treatment options, there are currently no FDA-approved medications for Basilicata-Akhtar syndrome. However, researchers are actively exploring new therapeutic approaches, including gene therapy and other innovative treatments [6].

It's also worth noting that early intervention and management by a pediatric nephrologist may be necessary in some cases, particularly if the individual has associated kidney problems [1]. A comprehensive treatment plan should be developed on an individual basis, taking into account the unique needs and symptoms of each person with Basilicata-Akhtar syndrome.

References:

[1] Prophylactic treatment and subsequent evaluation by a pediatric nephrologist may be necessary; (5) [5] ... treatment with HDAC inhibitors, which resulted in variably ... disorders, by genetics researchers, and by advanced students in science and medicine. [6] There have been promising studies identifying the disorder and showing potential for treatment, but continued research is essential for positive outcomes. [9] ... treatment with HDAC inhibitors, which resulted in variably ... disorders, by genetics researchers, and by advanced students in science and medicine.

Basilicata-Akhtar syndrome, also known as Intellectual development disorder, X-linked syndromic type 36, is a rare genetic disorder characterized by global developmental delay, feeding difficulties, hypotonia, and poor or absent speech. When considering the differential diagnosis of Basilicata-Akhtar syndrome, several other conditions should be taken into account.

• Autism Spectrum Disorder (ASD): While ASD can present with similar symptoms such as delayed development and communication difficulties, it is typically not associated with feeding difficulties and hypotonia.
• Muscle Tone Abnormalities: Conditions like Hypotonia-Cerebellar Ataxia Syndrome or other neuromuscular disorders may present with muscle tone abnormalities, but they are distinct from the global developmental delay and feeding difficulties seen in Basilicata-Akhtar syndrome.
• Macrocephaly: Some conditions, such as Sotos syndrome, can be associated with macrocephaly (an abnormally large head size), which is also a feature of Basilicata-Akhtar syndrome. However, Sotos syndrome typically presents with accelerated growth and intellectual disability rather than the specific constellation of symptoms seen in Basilicata-Akhtar syndrome.
• Gastrointestinal Problems: Conditions like Cystic Fibrosis or other gastrointestinal disorders can present with feeding difficulties, but they are not typically associated with global developmental delay and hypotonia.

It's essential to note that a diagnosis of Basilicata-Akhtar syndrome is often made based on clinical evaluation, family history, and genetic testing. A consultation with a clinical genetic specialist is crucial for accurate diagnosis and management.

References:

• [1] The description of Basilicata-Akhtar syndrome as an ultrarare cause of syndromic development delay, resulting from the loss of the MSL3 gene.
• [3] The mention of global developmental delay, feeding difficulties, and muscle hypotonia as characteristic features of Basilicata-Akhtar syndrome.
• [11] The detailed description of the condition's characteristics, including dysmorphic facial features and mild distal skeletal anomalies.
• [13] The identification of MSL3 as a candidate gene in the Deciphering Developmental Disorder Study 13 and its association with Basilicata–Akhtar syndrome.