primary autosomal dominant microcephaly 18

Primary autosomal dominant microcephaly (PADM) refers to a rare genetic disorder characterized by a significantly small head size, often present at birth or developing in early childhood.

Characteristics and Symptoms:

• Small head circumference apparent from early childhood [3][5]
• Global developmental delay or intellectual disability [1][6]
• Progressive microcephaly beginning at birth [2][6]
• May be associated with other symptoms such as seizures, attention problems, or short stature [2]

Causes and Genetics:

• PADM is caused by mutations in the ASPM gene, which plays a crucial role in brain development [1]
• The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene

Based on the provided context, here are some signs and symptoms associated with Primary Autosomal Dominant Microcephaly (PADM):

• Intellectual disability: Borderline to moderate intellectual disability may be associated with PADM [10].
• Developmental delays: Delayed ability to walk, delayed speech and language development, and dysplastic corpus callosum are some of the clinical features of PADM [12].
• Physical characteristics: Some individuals with PADM may have a narrow, sloping forehead, mild seizures, problems with attention or behavior, short stature compared to others in their family, gingival overgrowth, long palpebral fissure, long philtrum, pointed chin, prominent nasal bridge, protruding tongue, and short nose [13].
• Neurological symptoms: Hyperreflexia, spastic tetraplegia, axial hypotonia, inability to walk, enlarged ventricles, seizures (in some patients), delayed walking, and speech difficulties are some of the symptoms associated with PADM [14].

It's worth noting that most patients with PADM have variable and nonspecific additional features, including facial dysmorphism, hypotonia, limb hypertonia, poor feeding, and distal skeletal abnormalities [15].

Based on the provided context, here are some diagnostic tests that may be relevant for primary autosomal dominant microcephaly:

• Genetic testing: A multigene panel that includes WDR62 and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of primary autosomal dominant microcephaly [3].
• Exome Sequencing with CNV Detection: This sequencing test assesses genes associated with syndromes where microcephaly is a clinical feature, including Rett syndrome and Angelman syndrome [7].
• Molecular genetic testing: Recommended for the parents of a proband to confirm that both parents are heterozygous for an ASPM pathogenic variant [4].

It's worth noting that establishing care with an engaged and dedicated primary care provider (PCP) may improve care and shorten the time it takes to reach an accurate diagnosis, including referrals to specialists and ordering diagnostic tests [11].

Based on the provided context, it appears that there isn't a specific search result directly related to the "drug treatment" of primary autosomal dominant microcephaly 18. However, I can provide some general information about the condition and its management.

Primary autosomal dominant microcephaly (PADM) is a rare genetic disorder characterized by a small head circumference at birth and non-progressive mental retardation [4]. The condition is caused by mutations in genes involved in brain development and growth.

While there isn't specific information on drug treatment for PADM 18, the management of this condition typically involves symptomatic care provided by a multidisciplinary team, including pediatric neurologists, developmental pediatricians, speech-language pathologists, and other specialists [2].

It's essential to consult with a healthcare professional for medical advice and treatment. They can provide personalized guidance based on individual circumstances.

Regarding drug treatment specifically, there isn't any information in the provided context that suggests a particular medication or class of medications is used to treat PADM 18. However, it's possible that some individuals may be prescribed medications to manage associated symptoms or complications.

If you're looking for more specific information on drug treatment for PADM 18, I recommend consulting with a healthcare professional or searching for peer-reviewed articles and clinical trials related to this condition.

References: [2] - Treatment is symptomatic. Care by a multidisciplinary team, often including a pediatric neurologist, developmental pediatrician, speech-language pathologist, and other specialists. [4] - MCPH is a neurodevelopmental disorder. It is characterized by two principal features, microcephaly present at birth and nonprogressive mental retardation.

Differential Diagnosis of Primary Autosomal Dominant Microcephaly

Primary autosomal dominant microcephaly (PADM) is a rare genetic disorder characterized by congenital microcephaly, intellectual disability, and other developmental delays. When considering the differential diagnosis for PADM, several conditions should be taken into account.

• Other forms of primary microcephaly: Disorders such as WDR62-related primary microcephaly, CDK2AP1-related primary microcephaly, and MCPH1-related primary microcephaly can present with similar symptoms to PADM. These conditions are inherited in an autosomal recessive manner and may exhibit overlapping clinical features.
• Autosomal dominant disorders: Conditions like Sotos syndrome, Weaver syndrome, and Perlman syndrome can also cause congenital microcephaly and intellectual disability. These syndromes are typically inherited in an autosomal dominant pattern and often present with additional systemic features.
• Genetic syndromes: Rare genetic syndromes such as Mowat-Wilson syndrome, Miller-Dieker lissencephaly syndrome, and Aicardi syndrome can also be considered in the differential diagnosis of PADM. These conditions are often associated with congenital microcephaly, intellectual disability, and other systemic features.
• Metabolic disorders: Certain metabolic disorders like pyruvate dehydrogenase deficiency and megalencephalic leukodystrophy with subcortical cysts can also present with congenital microcephaly and developmental delays.

It is essential to note that the differential diagnosis for PADM may vary depending on the specific clinical presentation, family history, and genetic testing results. A comprehensive evaluation by a multidisciplinary team of healthcare professionals is necessary to accurately diagnose and manage this condition.

References:

• [6] Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.
• [8] The current diagnostic criteria for MCPH are: congenital microcephaly more than −3 SD below age and sex means; mental retardation but no other neurological features.
• [9] A rare genetic syndromic intellectual disability characterized by microcephaly, global developmental delay, mild to severe intellectual disability, impairment in speech and language development.