Arthrogryposis multiplex congenita (AMC)

Slides:



Advertisements
Similar presentations
Pedigrees Who do we inherit our traits from? DO YOU LOOK LIKE YOUR AUNT OR UNCLE? DO YOU AND YOUR COUSIN SHARE TRAITS?
Advertisements

Genetic Diseases.
14.2 Human Genetic Disorders
X-linked dominant inheritance: the basics a tutorial to show how the genes segregate to give the typical pedigree pattern Professor P Farndon, Clinical.
Two copies of each autosomal gene affect phenotype.
Arthrogryposis Multiplex Congenita (AMC) Syndrome diagnosed when 2 or more joints in more than one limb are fixed from birth Occurrence rate of 1 in 3,000.
Chapter 7 Genetic and Developmental Diseases. Review of Structure and Function Fertilization is the uniting of a sperm and ovum resulting in 23 pairs.
Sex Linked Inheritance
Sex Linked Inheritance A human female, has 23 pair of chromosomes A human male, has 22 similar pairs and one pair consisting of two chromosomes that are.
Pedigrees A pedigree is a diagram of family relationships that uses symbols to represent people and lines to represent genetic relationships. In a pedigree,
Karyotyping Sex-Linked Traits and Pedigrees! Oh My!
Papillon-Lefevre Syndrome Sherry Lockhart: Date: 11/8/2010.
7.1 Chromosomes and Phenotype KEY CONCEPT The chromosomes on which genes are located can affect the expression of traits.
A family history of a genetic condition
What is a Pedigree… And Nooooo it’s not Dogfood.
CHAPTER 9 Patterns of Inheritance Part 3. Human Genetic Analysis  Since humans live under variable conditions, in different places, and have long life.
 EV is an uncommon, rare, either inherited disorder or contracted infection through the Human Papilloma Virus (HPV). Where depending on your severity.
Pedigrees Woof. The Royal Hemophiliacs Last class we brought up hemophilia, a disease where the blood doesn’t clot normally A famous case occurred in.
Pedigrees A and B both represent the same family. Genetic testing shows that individual 4 has only nonmutant alleles of both genes and individual 12 has.
Trisomy 13- Patau syndrome Mental deficiency; Severe central nervous system malformations; Severe central nervous system malformations;
21 YEAR OLD FEMALE WITH PROGRESSIVE WEAKNESS Teaching NeuroImages Neurology Resident and Fellow Section © 2013 American Academy of Neurology.
Lecture 3 Pedigrees and Human Conditions Genes and BioTechnology.
1 Human Genetics: Pedigrees. Pedigree Looks at family history and how a trait is inherited over several generations and can help predict inheritance patterns.
Pedigrees & Pattern of Gene Inheritance. Target #19- I can describe the layout & purpose of a pedigree Many human disorders are genetic in origin  Genetic.
CP Biology Genetics Unit
Pedigree Charts The family tree of genetics. What is a Pedigree?  A pedigree is a flow chart that uses symbols to show the genetic history of family.
Achondroplasia- Dwarfism By: Melissa Findlay. Who is most likely to get Achondroplasia? Achondroplasia is an autosomal dominant condition. This means.
What is a Pedigree… And Nooooo it’s not Dogfood. Biology I Searcy Ninth Grade Center.
The family tree of genetics
Arthrogryposis Multiplex Congenita. Arthrogryposis multiplex congenita (AMC) Multiple joint contractures throughout the body. Non- progressive condition.
Pedigree Charts The family tree of genetics. Learning Objective I can use the correct symbols to put together a pedigree chart I can predict a genotype.
Getting Started: How are human genetics studied? Concepts/Vocabulary: – Co-dominance – Incomplete Dominance – Pedigree – Genetic carrier.
Understanding PEDIGREEs.
Pedigree Analysis.
CONGENITAL ANOMALIES DEVELOPMENTAL DISORDERS AND DYSPLASIAS
Pedigrees in Human Genetics
Inheritance Pedigree Analysis.
Objectives Students will be able to: Relate dominant-recessive patterns of inheritance in autosomal chromosomes to genetic disorders. Describe patterns.
Two copies of each autosomal gene affect phenotype.
Unit 3.
Noonan’s Syndrome Kimberly T. Edwards.
X-linked recessive inheritance
Arthrogryposis Arthrogryposis multiplex congenita (AMC) Arthrogryposis
Pedigrees Tracking Inheritance
Pedigrees: Tracking Inheritance
Sex-Linked: Following the X & Y Chromosomes
When Something Goes Wrong…
ALBINISM By: Melissa H.
Pedigree Analysis, Applications, and Genetic Testing
Different mode and types of inheritance
I can calculate determine inheritance through pedigrees.
Two copies of each autosomal gene affect phenotype.
Pedigree analysis In humans, pedigree analysis is an important tool for studying inherited diseases Pedigree analysis uses family trees and information.
Pedigree-family tree that shows the inheritance of a trait
Using pedigrees to determine patterns of inheritance
Pedigrees BIO Predict offspring ratios based on a variety of inheritance patterns (including dominance, co-dominance, incomplete dominance, multiple.
Cri du Chat Ilana Horton.
Two copies of each autosomal gene affect phenotype.
Two copies of each autosomal gene affect phenotype.
Cheryl Longman Consultant Clinical Geneticist
Pedigree analysis In humans, pedigree analysis is an important tool for studying inherited diseases Pedigree analysis uses family trees and information.
Passing Through the Generations: How to Read a Pedigree
Take out pedigree homework
STATION 1 How many males are affected? How many females are affected?
Pedigree Charts Diane Philip.
Sex-Linked Inheritance
X-Linked Inheritance (Sex Linked)
Pedigree Charts The family tree of genetics.
A case of four subsequently Escobar syndrome
Presentation transcript:

Arthrogryposis multiplex congenita (AMC) Vishaal Harisaran 205519005

History the term 'arthrogryposis' refers not to a distinct syndrome or single entity is characterized by congenital contractures. The Drachman hypothesis states that arthrogryposis is caused by immobilization of fetal limbs during the period of formation of joints received support from the finding of arthrogryposis in the offspring of a woman who received tubocurarine in early pregnancy for treatment of tetanus.

AMC), defined as permanent joint contractures present at birth, is one of the most common congenital defects in piglets and other mammals Arthrogryposis multiplex congenita most common type of arthrogryposis, hands, wrists, elbows, shoulders, hips, feet and knees are affected every joint is involved, including the jaw and back.

Arthrogryposis renal dysfunction cholestasis syndrome, also known as ARC Syndrome Arthrogryposis multiplex congenita, distal type 2B, also known as Freeman-Sheldon syndrome variant.

Clinical signs The most common clinical features in this family were flexion contractures of the elbows and knees and marked equinovarus. Females are less affected than males; the male/female ratio was 2 to 1.

Pathology Congenital Lesions Whole body –joints.

Genetic autosomal r ecessive in Yorkshire pigs teratogens Genetic autosomal r ecessive in Yorkshire pigs teratogens. Severe arthrogryposis DDx- in utero vitamin A or Manganese def, Classical swine fever, wild black cherry (bark) or poison hemlock

Control Since the inheritance is autosomal recessive proper mating programmes need to be implemented in order to eliminate the trait. Breeding patterns can be changed and the trait would be breeded out. While there is no reversal of this condition, individual quality of life can be greatly improved.