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Related Concept Videos

Functional Classification of Joints01:09

Functional Classification of Joints

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Functional Classification of Joints
The functional classification of joints is determined by the amount of mobility between the adjacent bones. Joints are functionally classified as a synarthrosis or immobile joint, an amphiarthrosis or slightly moveable joint, or as a diarthrosis, a freely moveable joint. Fibrous and cartilaginous joints can be functionally classified as either synarthroses  or amphiarthroses, whereas all synovial joints are classified as diarthroses.
Synarthrosis
An...
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Structural Joints: Synovial Joints01:16

Structural Joints: Synovial Joints

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Synovial joints are the most common type of joint in the body. A key structural characteristic for a synovial joint is the presence of a joint cavity. This fluid-filled space is where the articulating surfaces of the bones contact each other. Also, unlike fibrous or cartilaginous joints, the articulating bone surfaces at a synovial joint are not directly connected to each other with fibrous connective tissue or cartilage. This gives the bones of a synovial joint the ability to move smoothly...
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Structural Classification of Joints01:20

Structural Classification of Joints

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Joints, also known as articulations, are classified based on their structural characteristics, i.e., based on whether the articulating surfaces of the adjacent bones are directly connected by fibrous connective tissue or cartilage, or whether the articulating surfaces contact each other within a fluid-filled joint cavity. These differences serve to divide the joints of the body into three structural classifications.
A fibrous joint is where the adjacent bones are united by fibrous connective...
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Structural Joints: Cartilaginous Joints01:17

Structural Joints: Cartilaginous Joints

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As the name indicates, at a cartilaginous joint, the adjacent bones are united by cartilage, a tough but flexible type of connective tissue. Unlike synovial joints, these types of joints lack a joint cavity and involve bones joined together by either hyaline cartilage or fibrocartilage.
There are two types of cartilaginous joints:
Synchondrosis
A synchondrosis ("joined by cartilage") is a cartilaginous joint where bones are connected by hyaline cartilage. Synchondrosis may be temporary...
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Joints01:26

Joints

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Joints, also called articulations or articular surfaces, are points at which ligaments or other tissues connect adjacent bones. Joints permit movement and stability, and can be classified based on their structure or function.
Structural joint classifications are based on the material that makes up the joint as well as whether or not the joint contains a space between the bones. Joints are structurally classified as fibrous, cartilaginous, or synovial.
Fibrous Joints Are Immovable
The bones of a...
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Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

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Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
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Knee Arthrocentesis in Adults
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When arthralgia is not arthritis.

Juan Politei1, Graciela Remondino2, Ricardo Heguilen3

  • 1Department of Neurology, Division, of Neurometabolism, Foundation for Study of Neurometabolic Diseases, (FESEN), Buenos Aires, Argentina.

European Journal of Rheumatology
|February 3, 2017
PubMed
Summary

Fabry disease, an inherited metabolic disorder, can present as distal extremity pain, mimicking rheumatologic conditions. Early consideration of Fabry disease in differential diagnosis is crucial for timely treatment.

Keywords:
ArthralgiaFabry diseasedistal extremity pain

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Area of Science:

  • Pediatrics
  • Rheumatology
  • Genetics
  • Nephrology

Background:

  • Distal extremity pain in children and adolescents often leads to rheumatologic evaluations.
  • Non-rheumatologic causes of joint pain are frequently overlooked, delaying diagnosis and treatment.
  • Inherited metabolic diseases can manifest with symptoms mimicking rheumatologic conditions.

Purpose of the Study:

  • To highlight a case where Fabry disease was diagnosed after years of workup for presumed rheumatologic causes.
  • To emphasize the importance of a comprehensive differential diagnosis for distal extremity pain.
  • To underscore the diagnostic challenges and delayed treatment associated with overlooking non-rheumatologic conditions.

Main Methods:

  • Case report presentation of a 32-year-old male with a long history of distal extremity pain.
  • Review of extensive prior diagnostic workup for rheumatologic conditions and chronic kidney disease.
  • Genetic analysis, specifically α-galactosidase A enzyme activity assay, leading to Fabry disease confirmation.

Main Results:

  • The patient experienced chronic distal extremity pain since childhood, initially diagnosed as growing pains.
  • A 15-year diagnostic odyssey for rheumatologic causes and chronic kidney disease of unknown etiology preceded the correct diagnosis.
  • Fabry disease was confirmed through enzymatic assay, revealing an underlying inherited metabolic disorder.

Conclusions:

  • Fabry disease should be considered in the differential diagnosis of patients presenting with distal extremity pain, especially when rheumatologic workup is inconclusive.
  • Delayed diagnosis of Fabry disease can lead to significant morbidity and missed opportunities for early therapeutic intervention.
  • Collaboration between rheumatologists, immunologists, and geneticists is vital for accurate and timely diagnosis of such complex cases.