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Zpráva o onemocněních · Musculoskeletal

Progressive Pseudorheumatoid Dysplasia (CCN6)

Whole genome sequencing reads the CCN6 gene, previously called WISP3, for inherited changes in both copies that cause stiff, enlarged joints from childhood without inflammation.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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O tomto condition

A rare inherited joint and cartilage condition that begins in childhood with stiff, enlarged joints that can be mistaken for juvenile arthritis but without inflammation. It is caused by changes in both copies of the CCN6 gene.

Progressive pseudorheumatoid dysplasia is a rare inherited condition of the joints and cartilage. It usually begins between about 3 and 8 years of age, with stiffness and enlargement of the finger joints. Over time the stiffness spreads to the knees, hips and spine, and the condition can be mistaken for juvenile arthritis, although there is no inflammation.

It is caused by changes in both copies of CCN6, a gene needed to maintain joint cartilage. Each parent usually carries one changed copy. Flattened vertebrae, a short trunk and an abnormal walking pattern are features, and early osteoarthritis develops in adulthood.

Care is supportive, with physiotherapy, pain management, and joint replacement surgery for advanced hip or knee damage. Recognising the condition helps avoid treating it as inflammatory arthritis. Genetic counselling and carrier testing of relatives clarify recurrence risk.

Onemocnění, které analyzujeme

Autozomálně recesivní

Caused by changes in both copies of CCN6 (previously called WISP3), a gene needed to maintain joint cartilage. Each parent usually carries one changed copy.

Příznaky a projevy

Joint stiffness, swelling of the finger joints and reduced movement usually begin between about 3 and 8 years of age and slowly progress to the knees, hips and spine. Flattened vertebrae, short trunk and an abnormal walking pattern are features, while blood markers of inflammation stay normal. Early osteoarthritis develops in adulthood.

Co se diagnózou změní

Physiotherapy and pain management, with joint replacement surgery for advanced hip or knee damage. Recognising the condition helps avoid treating it as inflammatory arthritis, as it is often mistaken for juvenile arthritis. Genetic counselling and carrier testing of relatives clarify recurrence risk.

Analyzované geny

Známé také jako

arthropathy, progressive pseudorheumatoid, of childhood; PPAC; PPD; progressive pseudorheumatoid chondrodysplasia; SEDT-PA; spondyloepiphyseal dysplasia tarda - progressive arthropathy; spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome

MONDO:0008827OMIM 208230Orphanet 1159MedGen 96581Zdroje: [1][2][3]

Proč sekvenování celého genomu

This condition is inherited in a recessive way, and recognising it helps avoid treatment for inflammatory arthritis. Whole genome sequencing reads the CCN6 gene.

Relatives can be tested for carrier status

Each sibling of an affected person has a 1 in 4 chance of being affected and a 1 in 2 chance of being an asymptomatic carrier. Once the CCN6 changes are known, carrier testing for relatives and prenatal testing are possible.

Blood tests may look normal

Blood markers of inflammation stay normal in this condition, which is why it is often mistaken for juvenile arthritis. Treatment focuses on physiotherapy, pain management and, where needed, joint replacement.

Reference

  1. Bhavani GS, Al Rashdi S, Shah H, Shukla A, Dalal A, Girisha KM, 2015. Progressive Pseudorheumatoid Dysplasia. GeneReviews
  2. Progressive pseudorheumatoid dysplasia. MedlinePlus Genetics
  3. CCN6 gene. MedlinePlus Genetics

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Jedna souprava, zaslaná domů. Celý váš genom je sekvenován na klinickém standardu používaném pro diagnostická rozhodnutí. Zprávy připravené pro lékaře doručíme do vašeho Genome Manageru během 6–8 týdnů — trvale platné a průběžně aktualizované s vývojem vědy.

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