primary autosomal recessive microcephaly 9

Primary autosomal recessive microcephaly (MCPH) is a rare genetic disorder characterized by a significantly small head size and brain volume, typically diagnosed at birth or early childhood.

Clinical Features:

• Microcephaly: The most distinctive feature of MCPH is a head circumference that is more than 3 standard deviations below the age- and sex-matched average.
• Reduced Brain Volume: Individuals with MCPH have a smaller brain volume, which can lead to various neurological symptoms.
• Aggressive Behavior: Some people with MCPH may exhibit aggressive behavior, bimanual synkinesia (involuntary movement of both hands), compulsive behaviors, impulsivity, motor tics, seizures, self-injurious behavior, and simplified gyral patterns in the brain.

Causes and Genetics:

• Genetic Mutation: MCPH is caused by mutations in genes responsible for normal brain development.
• Autosomal Recessive Inheritance: The condition is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the condition.

Diagnosis and Management:

• Clinical Diagnosis: MCPH is diagnosed based on clinical features, such as microcephaly and reduced brain volume.
• Genetic Testing: Genetic testing can confirm the presence of a mutation in one of the responsible genes.
• Management: There is no specific treatment for MCPH. Management focuses on addressing associated symptoms and complications.

References:

• [1] Moynihan L., Jackson A. P., Roberts E., Karbani G., Lewis I., Corry P., Turner G., Mueller R. F., Lench N. J., Woods C. G. A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. Am J Hum Genet. 2000 Feb;66(2):724–727. doi: 10.1086/302777.
• [3] Microcephaly or reduced head size, brain atrophy. Autosomal recessive primary microcephaly (MCPH) is the prototype of isolated primary (congenital) microcephaly, affecting predominantly the cerebral cortex.
• [9] Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched average.

Based on the provided context, here are the signs and symptoms of primary autosomal recessive microcephaly:

• Reduced head circumference: Individuals with MCPH have a head circumference more than 3 standard deviations below the age- and sex-matched mean [3][5].
• Intellectual disability: Most patients have intellectual disability, which can range from mild to severe [4][9].
• Hyperactive behavior: Many individuals exhibit hyperactive behavior, which is often accompanied by attention problems [2].
• Seizures: Seizures may be present in some cases (10%) [2].
• Short stature: Some people with MCPH have short stature compared to others in their family [6].
• Narrow, sloping forehead: A narrow, sloping forehead is a common feature among individuals with MCPH [6].

It's worth noting that the severity and presentation of these symptoms can vary widely among affected individuals.

Diagnostic Tests for Primary Autosomal Recessive Microcephaly 9

Primary autosomal recessive microcephaly 9 (MCPH9) is a rare genetic disorder characterized by congenital microcephaly. Diagnostic tests are essential to confirm the condition and rule out other potential causes of small head size in infants.

Clinical Genetic Tests

• Molecular genetic testing for the CEP152 gene, which is associated with MCPH9 [1][3]
• Clinical genetic test offered by Intergen for conditions (1): Microcephaly 9, primary, autosomal recessive [2]

Other Diagnostic Tests

• Prenatal ultrasound to detect microcephaly in utero [3]
• Head circumference measurement to determine if the head size is more than 3 standard deviations below the age- and sex-matched population mean [5][8]
• Genetic testing for other genes associated with primary autosomal recessive microcephaly, such as CEP152 [9]

References

[1] Clinical tests (30 available). Molecular Genetics Tests. [2] Clinical Genetic Test offered by Intergen for conditions (1): Microcephaly 9, primary, autosomal recessive; Testing genes (1): CEP152 (15q21.1); ... [3] The condition can be diagnosed on prenatal ultrasound but absence of microcephaly does not exclude ... [4] [5] Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean, ... [8] Primary microcephaly is diagnosed when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean, ...

Unfortunately, there is no specific drug treatment for primary autosomal recessive microcephaly (MCPH). However, symptomatic treatment may be available to manage related conditions.

According to the search results, molecular genetic tests for some MCPH genes are currently available for research purposes only [9]. Therapy or symptomatic treatment is available for managing related symptoms, but there is no specific treatment that can cure or reverse the condition of primary autosomal recessive microcephaly.

It's worth noting that treatment options may vary depending on the individual case and the severity of the condition. A healthcare professional should be consulted for personalized medical advice and management [3].

Primary Autosomal Recessive Microcephaly (MCPH) Differential Diagnosis

The differential diagnosis for Primary Autosomal Recessive Microcephaly (MCPH) is crucial to rule out other conditions that may present with similar symptoms. According to various sources [9, 11, 14], the following are some of the key points to consider:

• Microcephalic disorders: MCPH should only be diagnosed after excluding other microcephalic disorders, such as Seckel syndrome and primary autosomal dominant microcephaly.
• Neurodevelopmental disorders: MCPH is a neurodevelopmental disorder characterized by microcephaly present at birth and nonprogressive mental retardation [13, 15].
• Clinical features: The clinical features