Paula and Bobby
Parents of Lillie
Alacrima, Achalasia, and Mental Retardation syndrome; AAMR
What is Alacrima, Achalasia, and Mental Retardation syndrome; AAMR?
Alacrima, Achalasia, and Mental Retardation syndrome; AAMR is a rare disease. It is also known as Glycosylation Disorder - Autonomic Dysfunction - Intellectual Disability.
A consanguineous Pakistani family and 10 further individuals from eight families were found (Koehler et al. (2013) to have a syndrome similar to AAA syndrome, but without evidence of adrenal insufficiency. The clinical picture included achalasia (onset three months to seven years) and alacrima from birth. Some had postural hypotension and some had anisocoria. Mutations were found in GMPPA.
Gold et al. (2017) described two sisters from a consanguineous family with intellectual disability and dysmorphic features due to homozygous splice site mutation in the GMPPA gene. Clinical characteristics included developmental delay, chronic constipation, reduced tears, hypohidrosis, xerostomia, and recurrent pneumonia. Dysmorphic features were low anterior hairline, dolichocephaly, prominent metopic ridge, bitemporal narrowing, telecanthus, broad nasal bridge, broad, square nasal tip, overhanging columella, hypoplastic alae nasi, high arched palate, cupid’s bow, downturned corners of the mouth, prognathism, long pointed chin and prominent earlobes. In addition, generalized hirsutism was noted. One of the affected individuals had diaphragmatic hernia diagnosed prenatally, microcephaly, gastroesophageal reflux, writhing and stereotypic movements, pseudomembranous colitis, and seizures.
Two sisters from a consanguineous family with a novel homozygous missense mutation in the GMPPA gene were reported by Benítez et al. (2018). Anodontia was present in both sisters and has not been previously reported. Common dysmorphic features were asymmetric triangular face, protruding chin, prominent forehead, high anterior hairline, divergent strabismus, a prominent nose, a short philtrum, downturned corners of the mouth, prominent helix and antihelix, fusiform fingers, bilateral thumb hypoplasia, wide feet and bilateral brachydactyly of toes.
* This information is courtesy of the L M D.
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What gene changes cause Alacrima, Achalasia, and Mental Retardation syndrome; AAMR?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 615510 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
GMPPA - 2q35
What are the main symptoms of Alacrima, Achalasia, and Mental Retardation syndrome; AAMR?
The typical symptoms of the syndrome are:
Nasal speech, Hyperkeratosis, Hearing impairment, Global developmental delay, Gait disturbance, Hypohidrosis, Sensory impairment, Adrenal insufficiency, Strabismus, Muscular hypotonia, Intellectual disability, Autosomal recessive inheritance, Orthostatic hypotension, Nystagmus, Dysphagia, Dysautonomia, Feeding difficulties in infancy, Achalasia, Alacrima, Anisocoria
How does someone get tested for Alacrima, Achalasia, and Mental Retardation syndrome; AAMR?
The initial testing for Alacrima, Achalasia, and Mental Retardation syndrome; AAMR can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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