My life with Artrogriposis

22:34 4th of July just wanted to post why i haven't writen on my blog i hve been bed bound for nearly 3 weeks do to a athritis infection i feel very poorly and almost want to give up
my family is always with me that is what makes me live.
Hopefully ill get better soon only God knows what im going trough at this moment lets see what happens.

To all my friends and family here i am writing in my blog my birthday i turned 32 on May 12 2008 everything was planed by my beutiful wife and my 2 children they were going to make me a birthday suprise party , it was suposed to be beutiful and everyone was loking foward to giving me a beutiful birthday party.
Well i failed once again , a day before my birthday i had a big fall and really hurt my self
really bad when i fell i tought i was going to die maybe i should have...
My wife and kids loking at me on the floor and there i was in pain ... my wife tried to pick me up but she was so scared that i had broken something she lost all her strenght finally after a while she did it she put into my chair and took me to bed were she checked if i had broken anything fortunally i had no broken bones thank god...
That night i had no other pain other than the regular me and the wife tought it was all a scare well we tought wrong .
The next morning i opened my eyes and i couldnt move move at all i wa in severe pain all trough my body but mostly in my belly. I did not tell anyone i thought it would go away , when my wife came in the room she knew something was wrong but didn't say anything to me neither did i she is used to seing me like this so she tells me HAPPY BIRTHDAY BABY and i replyed thank you honey then my children said HAPPY BRITHDAY DADDY , i started to cry i was in extreme pain they knew that daddy was hurt.
My birthday was ruined , i couldn't get up , move or anything , so i had my birthday cake with my wife and kids in bed.

Today 19th of May 2008 i got up bed , im still in lots of pain and also swollen so im going to Hospital tomorrow.
This has been a bad week still i don't know if i have broken anything because i to stubern and scared to go into hospital. I have no choice i have to go i thought i would let you know also it is good for me to talk (write) about this i will keep you informed.

LOTS OF LOVE WITH ALL MY HEART TO EVER IS READING , MY WIFE , AND MY BEUTIFUL CHILDREN...

The beginning of my life story

Before i begin telling you all about my life i would like to say to all my blog readers to be patient with me because i do get tired very easely and i feel disconfort thank you to all.

Birth

(to be continued)

Distal arthrogryposis

uk.wrs.yahoo.com/_ylt=AntuiEwZ.qRowEeVXPzgzsxWBQx./SIG=12lvg3vcd/**http%

Case report

This is a 16-year-old woman (G1P0), referred to our antenatal unit at 24th week for skeletal anomalies. Her medical history was unremarkable. Our ultrasound investigation revealed:
Intrauterine growth retardation with normal amniotic fluid volume
Abnormal fetal profile with micrognathia
Abnormal position of hands with possible syndactyly of the third and fourth fingers of the left hand
Clubbed feet
Generalized fetal akinesia with fixed position of several joints
The serological tests were negative (TORCH and Chikungunya infections) an the karyotype was also normal (46, XX). The anomalies were consistent with the distal arthrogryposis multiplex congenita. The parents opted for termination of the pregnancy. Postmortem radiography showed the hyper-flexed multiple contractures of the joints of the upper and lower extremities. The elbows were in fixed flexion. The parents refused autopsy.
Images 1 and 2: Image 1 - 3D sonography at 24th week of pregnancy showing abnormal fetal profile with micrognathia; Image 2 - 2D gray scale scan showing fetal hand with suspected syndactyly of the third and fourth finger.

Images 3 and 4: Image 3 - 2D gray scale scan showing fetal hand with suspected syndactyly of the third and fourth finger; Image 4 - 3D sonography showing the same hand as image 3 with suspected syndactyly of the third and fourth finger.

Images 5 and 6: Image 5 - 2D gray scale image showing abnormally flexed fetal hand; Image 6 - 2D gray scale image showing abnormal position of the left and right fetal hand.

Images 7 and 8: 2D gray scale images showing flexed left knee and clubbed foot.

Images 9 and 10: 2D gray scale images showing clubbed feet.

Images 11 and 12: Postmortem images of the hands kept in flexed position

Images 13 and 14: Postmortem images of the clubbed feet

Images 15 and 16: Postmortem radiograms.

With Arthrogryposis other problems and complication acure.

Introduction (Instability: 1:60 at birth; 1:240 at 1 wk: Dislocation untreated; 1:700).

(a) There is originally a congenital instability of the hip which later dislocates by muscle pulls or gravity if untreated.

(b) There is familial predisposition for this problem and female predominance.

(c) Growth of the femoral head, acetabulum and innominate bone are delayed until the femoral head fits firmly into the acetabulum.

Mechanisms of Production

(a) There is familial displasia of the hip.

(b) There is a relationship between placental transmission of material joint softening hormones (e.g. Relaxin) which are inhibited by androgens in the male foetus. When a and b are present there is instability of the hip.

(c) Dislocation is produced by the small head slipping out of the shallow acetabulum in the extended position of the hip and is inhibited by the abducted position of the hip.

Treatment

Treatment must be instituted early to avoid a growth deformity of the hip. To ensure there is no instability, infants are tested at birth for hip stability and unstable hip children are nursed in the Frog Position (abducted hip posture).

Delay in treatment leads to frank dislocation of the hip (the femoral head comes out of joint), and there is a shallow acetabulum and a small femoral head. See Photo CDH3. If this condition is allowed to occur an operation may be necessary to produce a more horizontal roof to the acetabulum and produce hip stability. See Photo CDH4.

Posterior dislocation of the hip produces flexion deformities of the hip with compensatory Lordosis - exaggerated lumbar curvature. See Photo CDH5 (both female).

Questions:

1. In CDH5 the smaller child on the right shows Trendelenberg's Sign - as she raises her right foot the right side of the pelvis lowers instead of raising. In the normal patient the hip rises when the ipsilateral foot is raised from the ground. What muscle is chiefly responsible for the normal tilting of the hip?

2. What conditions may give rise to Trendelenberg's Sign?

Scoliosis

This is involved with assymetric growth impairment of the vertebral bodies.

There is lateral deviation of the spine with a 3-fold deformity:

Lateral flexion
Forward flexion
Rotation of the vertebral column on the long axis

The deformity is compensated by movement of the vertebral column above and below the affected region producing a primary and two secondary curves. This deformity progresses rapidly in adolescence and becomes fixed once bone growth is completed

Muscular Dystrophies

There are several different types of Muscular Dystrophies (wasting) including: Duchenne Muscular Dystrophy, Autosomal Recessive Muscular Dystrophy, Congenital Muscular Dystrophy and Myotonic Dystrophy.

Duchenne Muscular Dystrophy

The most common occuring in Boys and in Duchenne Muscular Dystrophy (DMD). This cause of the disease was discovered in 1988 as a mutation in dystrophin, a protein that lies under the muscle fiber membrane and maintains the cell's integrity. As skeletal muscles have little prenatal load or use it is not until postnatally that muscle wasting occurs, usually in the anti-gravity muscles first. This is a progressive disease usually detected between 3-5 years old.

There is a milder adult (30-40 years old) onset form of the disease Becker's Muscular Dystrophy (BMD) that involves mutations in the same gene

Congenital Muscular Dystrophy
Mutations in the laminin alpha-2 chain (LAMA2, merosin) gene lead to a deficiency of this protein.

Laminin is an extracellular matrix glycoprotein expressed in basement membranes. The laminin alpha-2 chain is specifically found in basement membranes of striated muscle and Schwann cells.

Autosomal Recessive Muscular Dystrophy

Dystroglycan, a protein that associates with both dystrophin and membrane molecules, is a candidate gene for the site of the mutation in autosomal recessive muscular dystrophies. A knockout mouse has been generated that has early developmental abnormalities.

Myotonic Dystrophy

An inherited disorder in which the muscles contract but have decreasing power to relax. With this condition, the muscles also become weak and waste away. The myotonic dystrophy gene, found on chromosome 19, codes for a protein kinase that is found in skeletal muscle, where it likely plays a regulatory role. The disease is "amplified" through generations probably by a similar GC expansion associated with Huntington disease.

Arthrogryposis
(Multiplex Congenita)

A rare disease. Severe cases are characterised by multiple deformities at birth with gross stiffening of joints and hypotonia or wasting of muscles.

Such a stiff fetus frequently sustains fractures before or during delivery, this newborn has had a fractured right humerus.

Photo AG2 shows deformities originally thought to be joints, then joints and muscles then finally innervation was also implicated.

Photo AG3 shows normal and abnormal muscles in close proximity. Variations in the degree of severity of joint deformity are expressions of varying degrees of muscular and neurological abnormality.

Limb Abnormalities

Congenital Limb Reduction

Thalilomide was the most celebrated limb reducing insult (teratogen) in humans which also produced a range of other deformities depending on developmental time and concentration of the drug exposure.

Agents - Many substances have been found capable of producing limb reduction defects in experimental animals but few have been related to humans.

Mechanisms - Limb reduction defects may also be indirect, for example with loss of blood supply to part of the limb or to defects in innervation at the spinal or cerebral level. Also there are a number of as yet undefined mechanisms involved.

Limb reduction defects may be apical (congenital amputation) or pre- or post-axial (absence of radius and lateral digits; ulnar and medial digits).

Finger and Toe Defects

Fusion of fingers or toes which may be single or multiple and may affect: skin only, skin and soft tissues or skin, soft tissues and bone.

The condition is unimportant in toes but disabling in fingers and requires operative separation and is frequently inherited as an autosomal dominant.

The presence of this additional "webbing" reflects preservation of the developmental tissues that in normal development are removed by programmed cell death (apotosis).

Presence of additional toes or fingers also called polydactylia or polydactylism. The condition is often treated surgically in the infant.

Ernest Hemingway in the 1930's had a six-toed cat (Snowball) showing a form of polydactyly and cats with a similar condition are now called "Hemingway cats".

Polysyndactyly

Developmental abnormality where there is a combination of polydactyly with syndactyly is known as polysyndactyly.

Triphalangeal Thumb (TPT)

Developmental abnormality with three phalanges instead of two, forming a long, finger-like thumb. Usually inherited as an autosomal dominant trait, gene locus chromosome region 7q36.

Introduction
There are a large number of different musculoskeletal abnormalities affecting one or a combination of bone and muscle development in the skull, trunk and limbs. This page therefore can only broadly introduce the topic.

Arthrogryposis

Arthrogryposis, also known as Arthrogryposis Multiplex Congenita, is a rare congenital disorder that causes multiple joint contractures and is characterized by muscle weakness and fibrosis. It is a non-progressive disease. The disease derives its name from Greek, literally meaning 'curved or hooked joints.
There are many known subgroups of AMC, with differing signs, symptoms, causes etc.In some cases, few joints may be affected and the range of motion may be nearly normal. In the most common type of arthrogryposis, hands, wrists, elbows, shoulders, hips, feet and knees are affected. In the most severe types, nearly every joint is involved, including the jaw and back.
Frequently, the contractures are accompanied by muscle weakness, which further limits movement. AMC is typically symmetrical and involves all four extremities with some variation.

Signs and symptoms

There are numerous symptoms for this group of diseases.Some of the more common signs and symptoms are associated with the shoulder (internal rotation deformity), elbow (extension and pronation deformity), wrist (volar and ulnar deformity), hand (fingers in fixed flexion and thumb-in-palm deformity), hip (flexed, abducted and externally rotated, often dislocated), knee (flexion deformity) and foot (clubfoot deformity).Complications may include scoliosis, lung hypoplasia leading to respiratory problems, growth retardation, midfacial hemangioma, facial and jaw deformities, respiratory problems, and abdominal hernias. Cognition and speech are usually normal.

Causes

The cause is unknown, although several mechanisms have been suggested. This includes hyperthermia of the fetus, prenatal virus, fetal vascular compromise, septum of the uterus, decreased amniotic fluid, muscle and connective tissue developmental abnormalities.In general, the causes can be classified into extrinsic and intrinsic factors.

Extrinsic

Intrinsic

Diagnosis

To date, no prenatal diagnostic tools are available to test for the condition. Diagnosis is only used to rule out other causes. This is done by undertaking muscle biopsies, blood tests and general clinical findings rule out other disorders and provides evidence for AMC.

Treatment there is no cure, symptoms and deformities may still be alleviated with various methods due to multiple contractures and weakness. Physical therapy intervention including stretching (may include casting and splinting program of affected joints), strengthening, mobility training, are undertaken to improve flexion and range of motion. Occupational therapy interventions can include training in ADL and fine motor skills as well as addressing psychosocial and emotional implications of a chronic condition. Since there is a variety of different deformities, individually tailored orthopaedic correction is needed. Orthopedic surgery is usually needed to correct severely affected joints and limbs and symptoms such as clubfoot, hernia repair and correction if unilateral hip dislocation occurs. The disease is very rare but most cases envolve dislocating of the shoulders. This can be done manually with no pain but by doing this it wears away the ball inside the bone tissue. By doing this it could lead to severe artheritus and eventually amputation. The operation is a very difficult procedure for the shoulder joint. The surgeon will carefully make an insition in the chest, to get at the rib cage, and then will drill a hole through the armpit and through the shoulder. Then a metal bar will be carefully placed through the shoulder and bolted tightly at the top. The bottom will be clamped to the rib cage and will be tightly shut to stop mobility. This is a very painful procedure. The surgeon will then stitch up any open wounds and clean any cuts that may get infected. The bars will be visible so holes are necessary in the clothing to prevent any discomfort. These bars will be on for 5 to 6 years.

Prognosis