primary autosomal recessive microcephaly

Primary autosomal recessive microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth, with variable degrees of mental retardation [1]. It is also known as MCPH.

The disorder is characterized by two principal features: microcephaly present at birth and nonprogressive mental retardation [9]. Some people with MCPH have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family [3].

Primary microcephaly refers to the clinical finding of a head circumference more than 3 standard deviations (SD) below the age- and sex-related mean, which is a key diagnostic criterion for MCPH [6]. The disorder affects predominantly the cerebral cortex, with minimal or no extra-central nervous system malformation [7].

MCPH is a neurodevelopmental disorder that is characterized by congenital microcephaly and intellectual disability without extra-central nervous system malformation [8]. It is a rare disorder of neurogenic mitosis characterized by reduced head circumference at birth with variable degree of mental retardation [5].

Key Features:

• Reduced head circumference at birth
• Variable degrees of mental retardation
• Narrow, sloping forehead in some cases
• Mild seizures or problems with attention or behavior
• Short stature compared to others in their family

References:

[1] Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head... [2] [3] Some people with MCPH have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family. [3] [5] MCPH is a rare disorder of neurogenic mitosis characterized by reduced head circumference at birth with variable degree of mental retardation. [5] [6] Primary microcephaly refers to the clinical finding of a head circumference more than 3 standard deviations (SD) below the age- and sex-related mean, ... [6] [7] Autosomal recessive primary microcephaly (MCPH) is the prototype of isolated primary (congenital) microcephaly, affecting predominantly the cerebral cortex. [7] [8] MCPH is a disorder characterized by congenital microcephaly and intellectual disability without extra-central nervous system malformation. [8] [9] MCPH is a neurodevelopmental disorder. It is characterized by two principal features, microcephaly present at birth and nonprogressive mental retardation. [9]

Primary autosomal recessive microcephaly (MCPH) is a rare genetic disorder characterized by reduced head size, intellectual disability, and other symptoms. Here are the signs and symptoms associated with MCPH:

• Reduced head size: The most distinctive feature of MCPH is a significantly smaller-than-average head size, which is often present at birth [6].
• Intellectual disability: Individuals with MCPH typically have nonprogressive mental retardation, meaning their intellectual abilities do not improve over time [8].
• Microcephaly: This condition is characterized by a baby's head being much smaller than normal, and it is most often present at birth (congenital) [6].
• Mild seizures: Some individuals with MCPH may experience mild seizures, which can be a concern for parents and caregivers [1][7].
• Problems with attention or behavior: Children with MCPH may exhibit hyperactive behavior, delayed speech development, and problems with attention or behavior [2][3].
• Short stature: Compared to others in their family, individuals with MCPH may have short stature [1][9].
• Delayed speech and language development: Speech delay is a common feature of MCPH, which can impact communication skills [3][4].

It's essential to note that each individual with MCPH may experience a unique combination of these symptoms. If you suspect someone has MCPH or any other genetic disorder, consult a medical professional for proper diagnosis and guidance.

References: [1] - Context result 1 [2] - Context result 1 [3] - Context result 3 [4] - Context result 3 [6] - Context result 6 [7] - Context result 7 [8] - Context result 8 [9] - Context result 9

Diagnostic Tests for Primary Autosomal Recessive Microcephaly

Primary autosomal recessive microcephaly (MCPH) is a rare genetic disorder characterized by congenital microcephaly, which is a head circumference that is 3 standard deviations below the mean at birth or at least 4 standard deviations below the mean. Diagnostic tests for MCPH are crucial in confirming the diagnosis and ruling out other conditions.

Genetic Testing

Genetic testing is available for several genes associated with MCPH, including ASPM, CENPJ, STIL, WDR62, and others [5]. Molecular genetic testing can identify mutations in these genes, which can confirm the diagnosis of MCPH. However, genetic testing may not be necessary if the clinical presentation is typical and other conditions have been ruled out.

Head Circumference Measurement

Head circumference measurement is a simple and non-invasive diagnostic tool for MCPH [8]. A head circumference that is 3 standard deviations below the mean at birth or at least 4 standard deviations below the mean can confirm the diagnosis of MCPH. This measurement should be taken by a trained healthcare professional.

Imaging Studies

Imaging studies, such as electroencephalogram (EEG) and brain magnetic resonance imaging (MRI), may be performed to rule out other conditions that may cause microcephaly [7]. However, these tests are not typically used for the diagnosis of MCPH.

Clinical Evaluation

A thorough clinical evaluation by a healthcare professional is essential in diagnosing MCPH. This includes taking a detailed medical history, performing a physical examination, and ruling out other conditions that may cause similar symptoms.

In summary, diagnostic tests for primary autosomal recessive microcephaly include genetic testing, head circumference measurement, imaging studies, and clinical evaluation. A combination of these tests can confirm the diagnosis of MCPH and rule out other conditions.

References:

[5] Clinical Genetic Test offered by PreventionGenetics, part of Exact Sciences for conditions (10): Microcephaly 5, primary, autosomal recessive; Microcephaly ...

[7] Apr 27, 2022 — Methods: Electroencephalogram and brain magnetic resonance imaging were performed for all cases. We evaluated genetic results of the 39 families ...

[8] by S Mahmood · 2011 · Cited by 214 — Head circumference (HC) or occipitofrontal circumference (OFC) is the most common diagnostic tool for MCPH. It has been observed that HC ranges ...

Treatment Options for Primary Autosomal Recessive Microcephaly (MCPH)

Primary autosomal recessive microcephaly (MCPH) is a rare genetically heterogeneous disorder characterized by reduced head circumference and brain development. While there is no specific treatment to reverse the condition, various management strategies can help alleviate symptoms and improve quality of life.

• Symptomatic Treatment: The primary focus is on managing associated conditions such as epilepsy, developmental delays, and speech difficulties through physical and speech therapy [1][5].
• Multidisciplinary Care Team: A team of specialists, including pediatric neurologists, developmental pediatricians, and speech-language pathologists, can provide comprehensive care and support for individuals with MCPH [4].
• Epilepsy Management: Anticonvulsants are commonly used to stabilize seizures in individuals with MCPH [1].

Current Research and Future Directions

While there is no specific treatment for MCPH2 or primary care focused on managing epilepsy symptoms, researchers continue to explore new avenues for understanding and addressing this condition. The identification of genetic mutations associated with MCPH has provided valuable insights into the underlying mechanisms of the disorder.

• Genetic Research: Ongoing research aims to elucidate the genetic basis of MCPH and identify potential therapeutic targets [8].

Conclusion

While there is no cure for primary autosomal recessive microcephaly, a multidisciplinary approach can help manage associated symptoms and improve quality of life. Continued research into the genetic mechanisms underlying this condition may ultimately lead to the development of targeted therapies.

References:

[1] Context result 1 [4] Context result 4 [5] Context result 7 [8] Context result 8

**Primary Autosomal Recessive Microcephaly