Paula and Bobby
Parents of Lillie
Arthrogryposis, Distal, Type 5; DA5
What is Arthrogryposis, Distal, Type 5; DA5?
Arthrogryposis, Distal, Type 5; DA5 is a rare disease. It is also known as Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities Arthrogryposis, Distal, Type Iib; Daiib DA5 Oculomelic Amyoplasia.
Lai et al., (1991) reported a man with clinical amyoplasia (qv), who also had an ophthalmoplegia. He could not move his eyes laterally in either direction or up and down. His son was similarly affected. The father had abnormal retinal pigmentation and an abnormal ERG. Schrander-Stumpel et al., (1993) reported a similarly affected 17-year-old male. He had abnormal macular pigmentation, an abnormal ERG and Duane anomaly. A father and daughter pair were reported by Sack (1978), the father was short of breath, as were all 4 members in the family reported by Beals and Weleber (2004). A pigmentary maculopathy (as in the Lai et al., (1991) family, was also present. Keratoglobus, optic nerve dysplasia and maclar retinal folds also occurred in the Beals and Weleber (2004) family.
The case reported by Puri et al., (2002) had a restriction of abduction in one eye and was thought to have Duane's retraction syndrome. Miller et al., (1994) reported a similar case. McCann reported a 2-generation family (3 affected) with Duane syndrome as part of the ophthalmoplegia. Two members were deaf, and the fingers were hyperextensible.Restrictive chest disease is a component of DA5 (Williams et al., 2007). A 3-generation family reported by Castori et al., (2009) had (in the proband only) juvenile macular dystrophy and restricted pronation and supernation. There was a stiff spine, lumbar lordosis, pectus excavatum and firm muscles. There was only mild restriction of movement in the large joints and mild ulnar deviation of the fingers.In the family described by Okubo et al., (2015), there was shortening of the 1st and 5th toes. Eye movements were also a problem.
A single case of arthrogryposis and retinitis pigmentosa was reported by Stubiger et al., (2009). Coste et al., (2013) reported 2 further familes and found mutations in PIEZO2 (it plays a role in mechanotransduction - the pathway in which mechanical forces are translated to biological signals). Note that the same gene has been found to be involved in Gordon syndrome (see elsewhere)
* This information is courtesy of the L M D.
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What gene changes cause Arthrogryposis, Distal, Type 5; DA5?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
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 - 108145 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
PIEZO2 - 18p11.22-p11.21
What are the main symptoms of Arthrogryposis, Distal, Type 5; DA5?
The typical symptoms of the syndrome are:
Intellectual disability, Abnormal electroretinogram, Pectus excavatum, Macrotia, Keratoconus, Keratoglobus, Limited wrist extension, Absent palmar crease, Abnormality of the rib cage, Abnormality of retinal pigmentation, Arachnodactyly, Absent phalangeal crease, Astigmatism, Bilateral talipes equinovarus, Blepharophimosis, Scoliosis, Triangular face, Strabismus, Ptosis, Clinodactyly, Camptodactyly of finger, Dimple chin, Talipes, Restrictive ventilatory defect, Duane anomaly, Hypermetropia, Visual impairment, High palate, Hernia of the abdominal wall, Short stature, Protruding ear, Ophthalmoplegia, Optic atrophy, Ophthalmoparesis, Autosomal dominant inheritance, Arthrogryposis multiplex congenita, Decreased facial expression, Firm muscles, Distal arthrogryposis, Deviation of finger, Congenital finger flexion contractures, Decreased palmar creases, Decreased muscle mass, Limitation of joint mobility, Epicanthus, Deeply set eye
How does someone get tested for Arthrogryposis, Distal, Type 5; DA5?
The initial testing for Arthrogryposis, Distal, Type 5; DA5 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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