For didactic purposes, we present a brief review and correlation of clinical and imaging findings. [archive.rsna.org]

The Fourth Edition of this best-selling book is packed full of information to help the reader move from a presenting problem to an accurate diagnosis. [books.google.com]

We presented the same seven community walkers of 11 patients with a similar management. Feet. [doi.org]

C.) is a syndrome, clinically characterized by persistent joint contractures present at birth. The process may involve one or all extremities, but to varying degrees, so there may be hypotonia even when contractures are present. [jstage.jst.go.jp]

• Weakness

  Contractures and joint weakness are present in the upper and lower limbs. In the upper limbs, triceps function will be present but biceps and brachialis will be nonfunctional or extremely weak. [rehab.research.va.gov]

  The limb girdle muscular dystrophy syndromes can be defined by severity, distribution of weakness, age of onset, sex distribution and other characteristics and many of these can be better understood by study of the under lying defect in cell structural [books.google.com]

  […] matches: Low match SPINAL MUSCULAR ATROPHY, TYPE I; SMA1 Spinal muscular atrophy refers to a group of autosomal recessive neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness [mendelian.co]

  The contractures are also often accompanied by weakness of muscles, which further hinders smooth movement. AMC is usually symmetrical, involving all 4 extremities with some variations. [primehealthchannel.com]

  Hannah was born with the neuromuscular disease arthrogryposis, which makes her joints curve and muscles extremely weak. She can't lift her arms very high without help. [cnn.com]

• Arachnodactyly

  Showing of 8 | 80%-99% of people have these symptoms Arachnodactyly Long slender fingers Spider fingers [ more ] 0001166 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Sensorineural hearing impairment 0000407 30%-79% of people have these symptoms [rarediseases.info.nih.gov]

  Congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears with overlapping features with Marfan syndrome. [casesjournal.biomedcentral.com]

  Adducted thumb-clubfoot syndrome is characterized by clubfoot (equinovarus talipes), clasped (adducted) thumbs, abnormally long fingers and toes (arachnodactyly), a prominent forehead, and psychomotor delay. [encyclopedia.com]

  […] impairment Flexion contracture Short stature Seizures Joint laxity Myopathy Rare Symptoms - Less than 30% cases Peripheral neuropathy Abnormality of the face Pica Macroglossia Increased susceptibility to fractures Blue sclerae Single transverse palmar crease Arachnodactyly [mendelian.co]

• Surgical Procedure

  Seventy-seven surgical procedures were performed overall; the mean number per child was 7 (3–16). Bilateral surgery was considered as two procedures, even if they were done during the same anaesthesia. [doi.org]

  Staging and timing of surgical procedures. We believe that the maximum benefit from surgical reconstruction of a limb with arthrogryposis is achieved by careful staging of procedures. [orthopaedicsone.com]

  Steroid injections and surgical procedures are the most prominent invasive procedures, surgical repair or reconstruction of the ECU is not often required, yet a severe ECU injury may cause these approaches to be necessary 15. [wikivisually.com]

• Painter

  Sunny Taylor-An American painter and activist. Nicholas Taylor-An American 3-time Paralympic champion in Quad Tennis. Luca “LazyLegz” Patuelli-A Canadian B-boy dancer on numerous television shows. Prudence Mabhena-Lead singer for the band “Liyana”. [nationwidechildrens.org]

  Sunny Taylor, an American painter and activist. [psychology.wikia.com]

• Trismus

  Type ii is divided into several subtypes and, in addition to arthrogryposis, has a variety of associated findings, including short stature, cleft lip and/or palate, scoliosis, trismus, and dull intellect 728.3 Excludes Applies To Arthrogryposis Immobility [icd9data.com]

  Hecht syndrome 0 *Abnormalities, Multiple *Arthrogryposis *Trismus. Spranger Schinzel Myers syndrome 0 *Arthrogryposis *Bone Diseases, Developmental Brain/abnormalities. [reference.md]

  […] contracture Elbow contractures [ more ] 0002987 Hand clenching Clenched hands 0001188 Hip contracture 0003273 Knee flexion contracture 0006380 Scoliosis Abnormal curving of the spine 0002650 Single transverse palmar crease 0000954 Stiff shoulders 0009742 Trismus [rarediseases.info.nih.gov]

  […] mitochondrialType 2b – mitochondrial disorder, absent palm crease,disorder, absent palm crease, ophthalmoplegiaophthalmoplegia  Type 2c – cleft lip and palateType 2c – cleft lip and palate  Type 2d – scoliosisType 2d – scoliosis  Type 2e - trismusType 2e - trismus [slideshare.net]

  Deformities of face and jaw (including asymmetry, flat nasal bridge, haemangiomata, micrognathia and trismus). Scoliosis, genital deformity and umbilical or inguinal herniae are common. [patient.info]

• Blonde Hair

  She's got plump cheeks, wide blue eyes, and tufts of blonde hair pinned with a pink bow. Her name is Sarah Grace. She was born with arthrogryposis--joint contractures in her arms. [web.archive.org]

• Flexion Contracture

  contracture of knee Congenital generalized flexion contractures of lower limb joints Congenital muscular dystrophy with arthrogryposis multiplex congenita Congenital neuropathy with arthrogryposis multiplex congenita Congenital short trunk Congenital [icd9data.com]

  The positive prognostic factors for walking abilities were active hips and knees, hip flexion contracture less than 20° and knee flexion contracture less than 15° without severe scoliosis. [doi.org]

  Other positive prognostic factors for independent walking were active hips and knees, hip flexion contractures of less than 20 degrees and knee flexion contractures less than 15 degrees without severe scoliosis. Arthrogryposis is a rare condition. [en.wikipedia.org]

  Elbow contractures [ more ] 0002987 Hand clenching Clenched hands 0001188 Hip contracture 0003273 Knee flexion contracture 0006380 Scoliosis Abnormal curving of the spine 0002650 Single transverse palmar crease 0000954 Stiff shoulders 0009742 Trismus [rarediseases.info.nih.gov]

  If a flexed knee is neglected, postural hip flexion contractures are likely to ensue. Combined contracture in both hips and knees is not compatible with good gait. [orthopaedicsone.com]

• Joint Stiffness

  Showing of 8 | 80%-99% of people have these symptoms Arachnodactyly Long slender fingers Spider fingers [ more ] 0001166 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Sensorineural hearing impairment 0000407 30%-79% of people have these symptoms [rarediseases.info.nih.gov]

  Affiliated tissues include heart, spinal cord and skin, and related phenotypes are joint stiffness and short nose Disease Ontology : 12 A nervous system disease characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle [malacards.org]

  Arthrogryposis manifests by stiff joints, interesting the four members, with skin abnormalities and occurs in children with normal intelligence. [omicsonline.org]

• Hand Deformity

  Camptodactyly- ichthyosis syndrome 0 *Arthrogryposis *Hand Deformities, Congenital *Ichthyosis. Oculomelic amyoplasia 0 *Arthrogryposis *Ophthalmoplegia *Retinal Diseases. Gu+¬rin- Stern syndrome 0 *Arthrogryposis. [reference.md]

  Hand: finger in fixed flexion & thumb in palm deformity. Hip: flexion, abduction & external rotation often dislocated. Knee: flexion deformity. Foot: clubfoot deformity. [icddelhi.org]

  […] rotated, flexed or abducted hip Joint immobility or restricted joint mobility Hand deformities, such as thumb-in-palm and fingers in a fixed flexion Cognition and speech of the patients affected by AMC remains normal. [primehealthchannel.com]

  This is important to consider because children with severe hand deformities and weakness depend on the integrated use of both hands (bimanual opposition) to perform any task that normal people do with one hand. [orthopaedicsone.com]

• Arthralgia

  […] limbs Abnormality of cardiovascular system morphology Micromelia Facial asymmetry Round face Oligohydramnios Hemiplegia/hemiparesis Abnormality of the hip bone Aplasia/Hypoplasia of the radius Maternal diabetes Abnormality of the lower limb Fatigue Arthralgia [mendelian.co]

• Osteoporosis

  Martinez-Glez et al. (2012) described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures [mendelian.co]

• Confusion

  There is confusion in the use of the AMC term because it may be related to amyoplasia, to distal arthrogryposis or to other types of arthrogryposis syndrome. [doi.org]

Treatment - Arthrogryposis multiplex congenita neurogenic type Treatment of arthrogryposis (joint contracture) involves occupational and physical therapy, well-fitted orthoses (splints and braces), and corrective surgery (if indicated). [checkorphan.org]

He recommended treatment by bracing if the curve is less than 30° at the beginning of treatment and if the patient is an ambulator. [doi.org]

In a child with normal intelligence, with appropriate treatment, independent ambulation and function can be expected. [orthoseek.com]

The treatment of arthrogryposis includes occupational therapy, physical therapy, splinting and surgery. [en.wikipedia.org]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

The prognosis is highly variable and is dependent on associated anomalies and severity. [radiopaedia.org]

Prognosis depends on the specific etiology of the contractures The incidence of abnormal joint contractures and other accompanying malformations in eight patients observed with three-dimensional ultrasonography are described [elsevier.es]

Prognosis - Arthrogryposis multiplex congenita neurogenic type Long term outlook is good for most people with AMCN, however symptoms can vary greatly. [checkorphan.org]

Our study suggests that neurogenic arthrogryposis is usually a non-progressive disorder and in the absence of concomitant brain abnormalities, allows the clinician to offer an optimistic prognosis to the family. [plu.mx]

What is the prognosis? In a child with normal intelligence, with appropriate treatment, independent ambulation and function can be expected. [orthoseek.com]

Etiology The Pena-Shokeir syndrome is not a unitary entity but is etiologically heterogeneous. Maternal myasthenia gravis has been diagnosed in some cases, and experiments in animal models show that curarization of the mother induces fetal akinesia. [orpha.net]

Abstract Arthrogryposis, or multiple congenital contractures, is the occurrence of joint contractures of diverse etiology in the prenatal period. [elsevier.es]

It is the purpose of this review to summarize and update what is known about the etiology, diagnosis, natural history, and orthopaedic management of children with these diagnoses. [doi.org]

Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations. Arch Pediatr. 2018 Jun 15. [Medline]. Hall JG. [emedicine.com]

Summary Epidemiology The syndrome is rare: about 100 cases have been described in the literature. About 30% are stillborn, and the majority of those live-born die of the complications of pulmonary hypoplasia. [orpha.net]

Epidemiology The prevalence is unknown but less than 100 patients have been reported in the literature so far. [rarediseases.info.nih.gov]

Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. Am J Med Genet A. 2006 Sep 1. 140A(17):1834-9. [Medline]. Lin IW, Chueh HY, Chang SD, Cheng PJ. [emedicine.com]

This case report as to its etidogy, clinical, pathophysiological, diagnostic, therapeutic, as well as prognostication purposes. [herdin.ph]

[…] congenital disorder involving multiple rigid joints (usually symmetric) leading to severe limitation in motion Epidemiology incidence 1:3000 live births Mechanism symmetry of contractures due to immobilization in utero neurogenic (90%) myopathic (10%) Pathophysiology [orthobullets.com]

[…] characterized by multiple joint contractures found throughout the body at birth. [1] The designation is currently used in connection with a very heterogeneous series of disorders that all include the common feature of multiple congenital joint contractures. [2] Pathophysiology [emedicine.com]

Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice. [books.google.com]

Symptoms - Arthrogryposis multiplex congenita neurogenic type Causes - Arthrogryposis multiplex congenita neurogenic type Prevention - Arthrogryposis multiplex congenita neurogenic type Not supplied. [checkorphan.org]

Prevention Genetic advice may be essential to prevent arthrogryposis. Extrinsically derived contractures have a low recurrence risk but the recurrence risk for intrinsically derived contractures depends on the aetiology. [patient.info]

Orofacial/odontological treatment It is important that individuals with this diagnosis receive dental preventive treatment, with extra prophylactic care and information on oral hygiene from an early age. [mun-h-center.se]