alacrima, achalasia, and impaired intellectual development syndrome

Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) is a rare genetic disorder characterized by the onset of three main features:

• Alacrima: A condition where tears do not form properly, leading to dry eyes.
• Achalasia: A swallowing disorder that affects the muscles in the esophagus, making it difficult to swallow food and liquids.
• Impaired intellectual development: Delays or impairments in cognitive skills, including speech and language development.

This syndrome is inherited in an autosomal recessive pattern, meaning that a child must inherit two copies of the mutated gene (one from each parent) to develop the condition. The symptoms typically appear at birth or in early infancy.

AAMR is also known as Alacrima-Achalasia Syndrome and is considered a congenital disorder of glycosylation. It affects various aspects of development, including motor skills, speech, and language, cognitive skills, and swallowing abilities.

References:

• [1] Characterized by onset of these 3 main features ...
• [2] An autosomal recessive disorder characterized by onset of alacrima, achalasia, and intellectual disability at birth or in early infancy.
• [5] Alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development.
• [10] Definition: A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without ...

Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) is a rare genetic disorder characterized by the presence of three primary features: alacrima, achalasia, and impaired intellectual development. The signs and symptoms of AAMR can vary from person to person, but they often include:

• Alacrima: This refers to the inability to produce tears, which can lead to dry eyes and eye irritation.
• Achalasia: This is a disorder that affects the esophagus, causing difficulty swallowing (dysphagia) due to the failure of the lower esophageal sphincter to relax.
• Impaired intellectual development: This refers to delayed or impaired cognitive and motor skills, which can range from mild to severe.

In addition to these core features, people with AAMR may also experience:

• Hypotonia: Weakness or low muscle tone
• Gait abnormalities: Difficulty walking or maintaining balance
• Anisocoria: Unequal pupil size
• Visual or hearing deficits: Problems with vision or hearing

These symptoms can be present at birth or develop in early infancy. It's essential to note that the severity and progression of AAMR can vary significantly from person to person.

References:

[1] Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. [1]

[10] Alacrima, achalasia, and impaired intellectual development syndrome (AAMR; also known as GMPPA-CDG) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. [10]

[11] Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. [11]

[12] Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and ... [12]

[14] Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. [14]

[15] The condition known as alacrima, achalasia, and impaired intellectual development syndrome (AAMR) is a genetic disorder. It is characterized by the manifestation of three primary features, namely, alacrima, achalasia, and impaired intellectual development, which are typically observed either at the time of birth or during early infancy (Table 1).In addition to these core features, there are ... [15]

Diagnostic Tests for Alacrima, Achalasia, and Impaired Intellectual Development Syndrome

Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) is a rare genetic disorder that requires accurate diagnosis to ensure proper treatment. Here are some diagnostic tests used to identify this condition:

• Schirmer Test: This test evaluates the wetting of a special strip placed in the lower eyelid to measure tear production. A positive result indicates alacrima, which is one of the primary features of AAMR [9].
• Genetic Testing: Genetic testing can confirm the presence of mutations in the GMPPA gene, which is associated with AAMR. This test involves analyzing a DNA sample from the individual or their family members to identify any genetic abnormalities [11][12].
• Physical Examination: A thorough physical examination by a healthcare professional can help identify other features of AAMR, such as hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits.
• Imaging Studies: Imaging studies like MRI or CT scans may be ordered to rule out other conditions that could cause similar symptoms.

Diagnostic Teams

A diagnostic team for AAMR may include:

• Primary Care Physician (PCP): A PCP can help you get specialist referrals, order diagnostic tests, and coordinate providers as you build a healthcare team.
• Geneticist: A geneticist specializes in inherited disorders and can provide expertise on the genetic aspects of AAMR.
• Neurologist: A neurologist may be involved to evaluate any neurological symptoms or abnormalities associated with AAMR.

References

[9] - The Schirmer test is a simple, bedside test that can help diagnose alacrima, which is one of the primary features of AAMR. [11][12] - Genetic testing can confirm the presence of mutations in the GMPPA gene associated with AAMR. [13] - A diagnostic team for AAMR may include a PCP, geneticist, and neurologist.

Based on the provided context, it appears that there are some potential treatment options for alacrima, achalasia, and impaired intellectual development syndrome (AAMR). Here are some possible drug treatments mentioned:

• Calcium channel blockers: These medications have been reported as a treatment option for AAMR [6].
• Botulinum toxin: This neurotoxin has also been used to treat the condition, particularly for achalasia symptoms [6].
• Nitrates: Another medication that may be used to alleviate achalasia symptoms in individuals with AAMR [6].
• Zonisamide: This anticonvulsant drug has been mentioned as a potential treatment option for AAMR [14].
• Clonazepam: This benzodiazepine has also been reported as a possible treatment for the condition, particularly for its intellectual disability and spasticity symptoms [14].

It's essential to note that these treatments may not be universally effective or suitable for all individuals with AAMR. Additionally, more research is needed to fully understand the efficacy of these medications in treating this rare genetic disorder.

References: [6] Heller's cardiomyotomy, medical treatment (calcium channel blockers, botulinum toxin, or nitrates) as well as pneumatic esophageal dilatation have been reported ... [14] An important gene associated with Alacrima, Achalasia, and Impaired Intellectual Development Syndrome is GMPPA (GDP-Mannose Pyrophosphorylase A). The drugs Zonisamide and Clonazepam have been mentioned in the context of this disorder.

Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) is a rare autosomal recessive disorder characterized by the onset of three main features: alacrima, achalasia, and impaired intellectual development. To aid in the diagnosis for patients manifesting AAMR, it's essential to consider differential diagnoses that may present with similar symptoms.

Possible Differential Diagnoses:

• Triple-A Syndrome (TAS): Also known as Allgrove syndrome, TAS is a rare autosomal recessive disorder characterized by alacrima, achalasia, and adrenal insufficiency. [5][9]
• Congenital Disorder of Glycosylation (CDG): CDG is a group of disorders that affect the glycosylation process in cells, leading to various symptoms including impaired intellectual development, hypotonia, and visual or hearing deficits. [3][11]
• Alacrima, Achalasia, and Impaired Intellectual Development Syndrome (AAMR): AAMR is a rare autosomal recessive disorder characterized by the onset of three main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. [1][2][10][11]
• Other Rare Disorders: There are several other rare disorders that may present with similar symptoms, including GMPPA-CDG, which is a form of CDG characterized by impaired intellectual development, hypotonia, and visual or hearing deficits. [11]

Key Features to Consider:

When considering differential diagnoses for AAMR, it's essential to look for the presence of alacrima, achalasia, and impaired intellectual development. Other features such as hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits may also be present.

References:

• [1] Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits.
• [2] Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits.
• [3] A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency.
• [5] Triple-A syndrome (TAS) is a rare autosomal recessive disorder characterized by alacrima, achalasia, and adrenal insufficiency.
• [9] To aid in the diagnosis for patients manifesting alacrima, we review the major causes and the various genetic disorders associated with alacrima and provide a differential template for diagnosis.
• [10] Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits.
• [11] Alacrima, achalasia, and impaired intellectual development syndrome (AAMR; also known as GMPPA-CDG) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits.