Clinical description Most patients present the disease before the age of 8 years (the onset varies between 2 and 11 years). Typically, there are no symptoms in the newborn period. [orpha.net]

PPAC has an early age of onset, with most affected children presenting with disease features by the age of 8-years. The major presenting features include difficulty in walking, muscle weakness, pain, arthropathy, and skeletal deformities. [cags.org.ae]

However, the exact mechanism of the disease is not clear at the present. The clinical course of the present patient is typical for the disease. [docslide.net]

Due to its presentation with joint stiffness and finger swelling, it is frequently misdiagnosed as polyarticular juvenile idiopathic arthritis (JIA). [acrabstracts.org]

Hum Genet 1998; 103: 604.9 van Buggenhout G, De Smet L, Maroteaux P, Fryns JP.Progressive pseudorheumatoid dysplasia: report of a patientwith symptoms present at birth. [myslide.es]

• Weakness

  INTERPRETATION: The deficits can be attributed to pronounced muscle weakness plus functional joint impairment and pain. [ncbi.nlm.nih.gov]

  Typical signs are prominent epiphysis, progressive joint stiffness, muscle weakness and early fatigue [ 1 ]. Optimized physiotherapy is the only effective strategy to slow down the progress of functional disability. [ped-rheum.biomedcentral.com]

  The disease manifests around the age of three to eight years and progresses with symptoms of early fatigue, muscle weakness, joint swelling and stiffness. The resulting functional limitations are often described as having a waddling gait. [scipers.com]

  Interpretation: The deficits can be attributed to pronounced muscle weakness plus functional joint impairment and pain. [sg.tum.de]

  The skeletal disorder and is charac-terized by polyarthropathy of large and small joints.Typical signs are prominent epiphysis, progressive jointstiffness, muscle weakness and early fatigue [1]. [docslide.com.br]

• Fatigue

  The disease manifests around the age of three to eight years and progresses with symptoms of early fatigue, muscle weakness, joint swelling and stiffness. The resulting functional limitations are often described as having a waddling gait. [scipers.com]

  Fatigue, muscle weakness, waddling gait, bowed legs and joint stiffness may be early manifestations. read more NGS/Del Dup Comprehensive Turnaround Time: Typically 1 to 2 weeks from receipt of a sample in the laboratory. [ctgt.net]

• Hepatomegaly

  Osteoarthritis Cardiomyopathy Abnormality of the metaphysis Hepatosplenomegaly Severe short stature Inguinal hernia Joint stiffness Short neck Autosomal dominant inheritance Hearing impairment Epiphyseal dysplasia Metaphyseal widening Limb muscle weakness Hepatomegaly [mendelian.co]

  Extraskeletal manifestations observed in the MPSs (e.g., coarse facies, corneal clouding, hepatomegaly, intellectual disability) are not present in PPD. [ncbi.nlm.nih.gov]

• Muscle Weakness

  INTERPRETATION: The deficits can be attributed to pronounced muscle weakness plus functional joint impairment and pain. [ncbi.nlm.nih.gov]

  weakness, progressive pseudorheumatoid dysplasia, rare disease, Progressive pseudorheumatoid arthropathy of childhood bone dysplasia, gait analysis, muscle weakness, progressive pseudorheumatoid dysplasia, rare disease, Progressive pseudorheumatoid arthropathy [scipers.com]

  Interpretation: The deficits can be attributed to pronounced muscle weakness plus functional joint impairment and pain. [sg.tum.de]

• Arthralgia

  It is characterised with arthralgia, joint contractures, bony swelling of metacarpophalangeal and interphalangeal joints and platyspondyly. [doi.org]

  It is char-acterised with arthralgia, joint contractures, bony swellingof metacarpophalangeal and interphalangeal joints andplatyspondyly. [myslide.es]

  It is char- acterised with arthralgia, joint contractures, bony swelling of metacarpophalangeal and interphalangeal joints and platyspondyly. [docslide.net]

  PPD patient symptoms were more severe with advancing age; and 3. in contrast with previously reported cases, arthralgia was not clearly observed in these two families, excluding the hip pain observed in the advanced stage of the disease. [journals.plos.org]

• Apathy

  Government apathy and financial problems deprived people of access to any sort of treatment. Following directions issued by the Governor, J&K’s Department of Health has now drawn up an action plan to deal with the crisis. [dnaindia.com]

Contributors: RM carried out the clinical workup and also drafted the manuscript. She will act as the guarantor for the paper. SV was responsible for the radiological aspects and co-drafted the manuscript. Funding : None. [indianpediatrics.net]

Management and treatment There is no specific treatment for PPAC. No clear prevention, improvement or slowing the disease course with anti-inflammatory drugs has been demonstrated. [orpha.net]

Treatment - Progressive pseudorheumatoid arthropathy of childhood There is still no cure. Treatment may include pain medication and hip and knee joint replacement surgery at an early age. [checkorphan.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Early diagnosis and treatment is required. Read more » [sehat.com]

Her symptoms did not respond to nonsteroid anti-inflammatory treatment. During her last hospitalisation period, she was reinvestigated. Radiological examination showed spondyloepiphyseal dysplasia, severe acetabular irregularity and osteoporosis. [ncbi.nlm.nih.gov]

Prognosis - Progressive pseudorheumatoid arthropathy of childhood Not supplied. Treatment - Progressive pseudorheumatoid arthropathy of childhood There is still no cure. [checkorphan.org]

Prognosis PPAC does not affect life expectancy, but the progressive nature of the disease frequently requires joint replacement by early adulthood. The documents contained in this web site are presented for information purposes only. [orpha.net]

Therefore, follow-up periods should proceed to acquire progression and prognosis data. [journals.plos.org]

Etiology The responsible gene WISP3 (mapping to human chromosome 6q22) encodes a secreted growth regulator. Diagnostic methods Diagnosis is based on clinical and radiographic findings. Molecular testing is available on research basis. [orpha.net]

Confirmatory testing is in progress in the parents in order to confirm phase (cis/trans) of the variants and provide further support for the molecular etiology of the disorder in this family. [ashg.org]

Relapsing polychondritis is a rare autoimmune disorder of unknown etiology, characterized by episodic inflammation/destruction of cartilaginous structures including the ear, nose, peripheral joints and tracheobronchial tree.( 4, 12 ) Immune damage may [archivesofrheumatology.org]

Summary Epidemiology The prevalence has been estimated at 1/1,000,000 but it is likely to be higher in the Middle East and the Maghreb. [orpha.net]

Relevant External Links for WISP3 Genetic Association Database (GAD) WISP3 Human Genome Epidemiology (HuGE) Navigator WISP3 Atlas of Genetics and Cytogenetics in Oncology and Haematology: WISP3 No data available for Genatlas for WISP3 Gene WISP genes [genecards.org]

The pathophysiology of CCN6 variants resulting in PPD is not completely understood. However, studies show that WISP-3 expression is significantly reduced in the chondrocytes of individuals with PPD [ Zhou et al 2007 ]. [ncbi.nlm.nih.gov]

Aims of this study were to determine typical malpositions that arise during walking and to identify preventive strategies to reduce excessive joint damage. [ncbi.nlm.nih.gov]

Therapeutic preventive strategies therefore should consider continuous muscle power exercises, stretching programmes and restrictive weight control. [sg.tum.de]

[…] dysplasia, Spondyloepiphyseal dysplasia tarda - progressive arthropathy, Arthropathy- progressive pseudorheumatoid- of childhood Symptoms - Progressive pseudorheumatoid arthropathy of childhood Causes - Progressive pseudorheumatoid arthropathy of childhood Prevention [checkorphan.org]

0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis [codelay.com]