Arthrogryposis Questions & Answers

Updated: Jan 03, 2019
  • Author: Mithilesh K Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK); Chief Editor: Maria Descartes, MD  more...
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Questions & Answers

Overview

What is arthrogryposis multiplex congenita (AMC)?

What is the role of fetal akinesia in the etiology of arthrogryposis multiplex congenita (AMC)?

What is the pathophysiology of arthrogryposis multiplex congenita (AMC)?

What is the prevalence of arthrogryposis multiplex congenita (AMC) in the US?

What is the global prevalence of arthrogryposis multiplex congenita (AMC)?

What is the mortality and morbidity associated with arthrogryposis multiplex congenita (AMC)?

What are the racial predilections of arthrogryposis multiplex congenita (AMC)?

What are the sexual predilections of arthrogryposis multiplex congenita (AMC)?

How is arthrogryposis multiplex congenita (AMC) diagnosed?

Presentation

Which family history findings are characteristic of arthrogryposis multiplex congenita (AMC)?

Which pregnancy history findings are characteristic of arthrogryposis multiplex congenita (AMC)?

Which delivery history findings are characteristic of arthrogryposis multiplex congenita (AMC)?

Which physical findings are characteristic of arthrogryposis multiplex congenita (AMC)?

How are contractures characterized in arthrogryposis multiplex congenita (AMC)?

Which physical deformities are characteristic of arthrogryposis multiplex congenita (AMC)?

Which craniofacial findings are characteristic of arthrogryposis multiplex congenita (AMC)?

Which respiratory findings are characteristic of arthrogryposis multiplex congenita (AMC)?

Which limb malformation are characteristic of arthrogryposis multiplex congenita (AMC)?

Which skin findings are characteristic of arthrogryposis multiplex congenita (AMC)?

Which cardiac findings are characteristic of arthrogryposis multiplex congenita (AMC)?

Which neurological findings are characteristic of arthrogryposis multiplex congenita (AMC)?

Which muscular findings are characteristic of arthrogryposis multiplex congenita (AMC)?

Which connective tissue abnormalities are characteristic of arthrogryposis multiplex congenita (AMC)?

What causes arthrogryposis multiplex congenita (AMC)?

DDX

What is amyoplasia (classic arthrogryposis)?

What are distal arthrogryposes?

How is bony fusion differentiated from arthrogryposis multiplex congenita (AMC)?

How is contractural arachnodactyly (Beals syndrome) differentiated from arthrogryposis multiplex congenita (AMC)?

Which conditions and syndromes are associated with arthrogryposis multiplex congenita (AMC)?

Which conditions and syndromes involving multiple body parts are included in the differential diagnoses of arthrogryposis multiplex congenita (AMC)?

How is multiple pterygium syndrome differentiated from arthrogryposis multiplex congenita (AMC)?

How is lethal multiple pterygium syndrome differentiated from arthrogryposis multiplex congenita (AMC)?

How is popliteal pterygium syndrome differentiated from arthrogryposis multiplex congenita (AMC)?

How is lethal popliteal pterygium syndrome differentiated from arthrogryposis multiplex congenita (AMC)?

How is Freeman-Sheldon syndrome differentiated from arthrogryposis multiplex congenita (AMC)?

How is osteochondrodysplasias differentiated from arthrogryposis multiplex congenita (AMC)?

Which conditions with limb involvement and CNS dysfunction are included in the differential diagnoses of arthrogryposis multiplex congenita (AMC)?

Which conditions and syndromes are included in the differential diagnoses of arthrogryposis multiplex congenita (AMC)?

Workup

What is the role of lab tests in the workup of arthrogryposis multiplex congenita (AMC)?

What is the role of imaging studies in the workup of arthrogryposis multiplex congenita (AMC)?

What is the role of an ophthalmologic evaluation in the workup of arthrogryposis multiplex congenita (AMC)?

What is the role of EMG and NCS in the workup of arthrogryposis multiplex congenita (AMC)?

What are the indications for an autopsy following a death due to arthrogryposis multiplex congenita (AMC)?

What is the role of biopsy in the workup of arthrogryposis multiplex congenita (AMC)?

Which histologic findings are characteristics of neurogenic types of arthrogryposis multiplex congenita (AMC)?

Which histologic findings are characteristics of myopathic types of arthrogryposis multiplex congenita (AMC)?

Treatment

How is arthrogryposis multiplex congenita (AMC) treated?

What is the role of surgery in the treatment of arthrogryposis multiplex congenita (AMC)?

Which specialist consultations are beneficial to patients with arthrogryposis multiplex congenita (AMC)?

Which dietary modifications are used in the treatment of arthrogryposis multiplex congenita (AMC)?

Which activity modifications are used in the treatment of arthrogryposis multiplex congenita (AMC)?

Medications

What is the role of medications in the treatment of arthrogryposis multiplex congenita (AMC)?

Follow-up

When is long-term monitoring indicated in the treatment of arthrogryposis multiplex congenita (AMC)?

When is inpatient care indicated in the treatment of arthrogryposis multiplex congenita (AMC)?

When is patient transfer indicated for the diagnosis and treatment of arthrogryposis multiplex congenita (AMC)?

What are the recurrence risks for parents and patients with arthrogryposis multiplex congenita (AMC)?

What are the possible complications of arthrogryposis multiplex congenita (AMC)?

What is the prognosis of arthrogryposis multiplex congenita (AMC)?

Where are patient education resources found for arthrogryposis multiplex congenita (AMC)?