primary autosomal recessive microcephaly 17

Primary autosomal recessive microcephaly-17 (MCPH17) is a severe neurologic disorder characterized by a very small head circumference that is apparent at birth [1,2,3,4,6,9]. It is caused by a mutation in the CIT gene [5,7].

The symptoms of MCPH17 include:

• Very small head circumference at birth
• No major brain abnormalities
• Reduced head circumference compared to average population

MCPH17 is a rare disorder and its exact prevalence is unknown. However, it is considered to be one of the severe forms of primary autosomal recessive microcephaly [8].

It's worth noting that the description of MCPH17 as a "severe neurologic disorder" suggests that it may have significant implications for an individual's cognitive and motor abilities. However, more research would be needed to fully understand the effects of this condition on affected individuals.

References: [1] Context 1 [2] Context 2 [3] Context 3 [4] Context 4 [5] Context 5 [6] Context 6 [7] Context 7 [8] Context 8 [9] Context 9

Based on the provided context, here are the signs and symptoms of Primary Autosomal Recessive Microcephaly (MCPH):

Clinical Features

• Delayed psychomotor development [4]
• Intellectual disability [2][4]
• Spasticity [2]
• Axial hypotonia [2]
• Dysmorphic features [2]

Other Symptoms

• Microcephaly, a condition involving a smaller-than-normal head [5][8][9]
• Variable degree of mental retardation [6]
• Nonprogressive mental retardation [7]
• Small cranium with significant reduction of the occipitofrontal head circumference (OFC) [8][9]

Additional Information

Microcephaly is a rare disorder of neurogenic mitosis characterized by reduced head circumference at birth, often leading to intellectual disability and poor motor function [6]. It is a neurodevelopmental disorder that affects brain growth and/or leads to brain atrophy [9].

Note: The information provided above is based on the context and may not be an exhaustive list of symptoms. If you have any specific questions or would like more information, please let me know!

Diagnostic Tests for Primary Autosomal Recessive Microcephaly

Primary autosomal recessive microcephaly (MCPH) is a rare disorder characterized by reduced head circumference at birth, with no major brain abnormalities. Diagnostic tests are essential to confirm the condition and rule out other potential causes.

• Clinical Genetic Test: A clinical genetic test offered by PreventionGenetics, part of Exact Sciences, can diagnose conditions associated with primary microcephaly, including autosomal recessive primary microcephaly (MCPH) [5].
• Sequence Analysis: Sequence analysis of the entire gene, including 10 bases of flanking noncoding DNA in all available transcripts, can provide 99.5% coverage of all coding exons of the genes associated with MCPH [3].
• Electroencephalogram (EEG): EEG is a diagnostic tool that can be used to evaluate brain activity and rule out other potential causes of microcephaly.
• Brain Magnetic Resonance Imaging (MRI): Brain MRI can also be performed to evaluate the structure and function of the brain.

Genetic Testing

Genetic testing is essential for diagnosing primary autosomal recessive microcephaly. The CIT gene is associated with this condition, and mutations in this gene have been identified in approximately 40% of patients [6]. Genetic testing can confirm the presence of a mutation in the CIT gene or other genes associated with MCPH.

References

• [3] This panel typically provides 99.5% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with...
• [5] Autosomal recessive primary microcephaly (MCPH) is a rare disorder characterized by reduced head circumference at birth, with no major brain abnormalities.
• [6] Approximately 40% of patients (both consanguineous and non-consanguineous) with a strict diagnosis of autosomal recessive primary microcephaly have mutations in...

Based on the context provided, it appears that there is no specific treatment for primary autosomal recessive microcephaly (MCPH) in terms of returning the baby's head to a normal size or shape. However, there are some treatments that can help manage symptoms.

• Symptomatic treatment: The best approach to treating MCPH is symptomatic care by a multidisciplinary team, which may include a pediatric neurologist, developmental pediatrician, speech-language pathologist, and other specialists [4].
• Epilepsy management: Since some people with MCPH experience seizures, anticonvulsants can be used to stabilize them [3]. However, there is no specific treatment for the condition itself.
• No cure available: Unfortunately, microcephaly is a lifelong condition that has no cure. The focus is on managing symptoms and providing supportive care [5][7][10].

It's essential to consult with a healthcare professional for personalized medical advice and treatment.

References: [3] - There is no specific etiologic treatment. Physical and speech therapy may be beneficial. Seizures are usually stabilized with common anticonvulsants ... [4] - Feb 17, 2022 — Treatment is symptomatic. Care by a multidisciplinary team, often including a pediatric neurologist, developmental pediatrician, speech-language ... [5] - How is microcephaly treated in a child? ... There is no treatment for microcephaly that will return the baby's head to a normal size or shape. Microcephaly is a ... [7] - There is no treatment for microcephaly that will return the baby's head to a normal size or shape. Microcephaly is a lifelong condition that has no cure. [10] - There is no treatment for microcephaly that will return the baby's head to a normal size or shape. Microcephaly is a lifelong condition that has no cure.

Primary Autosomal Recessive Microcephaly (MCPH) Differential Diagnosis

Primary autosomal recessive microcephaly (MCPH) is a rare neurodevelopmental disorder characterized by reduced head circumference at birth and variable degrees of intellectual impairment. When diagnosing MCPH, it's essential to consider other conditions that may present with similar symptoms.

Conditions to Consider:

• Microcephalic disorders: Other microcephalic disorders, such as primary (or "true") microcephaly, can be inherited in an autosomal recessive pattern and may present with similar symptoms.
• Neurodevelopmental disorders: Conditions like intellectual disability, developmental delay, or autism spectrum disorder may also be considered in the differential diagnosis of MCPH.
• Genetic syndromes: Certain genetic syndromes, such as Down syndrome, can also present with microcephaly and intellectual impairment.

Key Diagnostic Features:

To differentiate MCPH from other conditions, clinicians should look for the following key features:

• Reduced head circumference at birth (microcephaly)
• Variable degrees of intellectual impairment
• No gross anomalies of brain architecture

Genetic Testing:

Molecular genetic testing can help confirm a diagnosis of MCPH by identifying mutations in genes associated with the condition. This includes genes like WDR62, which is responsible for primary microcephaly.

References:

• [1] Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. [2]
• [3] In WDR62 primary microcephaly (WDR62-MCPH), microcephaly (occipitofrontal circumference [OFC] ≥2 standard deviations below the mean) is usually present at birth, but in some instances becomes evident later in the first year of life. Growth is otherwise normal.
• [6] Primary (or "true") microcephaly is inherited as an autosomal recessive trait and is thought to be genetically heterogeneous.

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