Amyoplasia (A = no, myo=muscle, plasia=growth) means no muscle growth and is the most common type of AMC . It is estimated that one third of people born with AMC will have Amyoplasia, about 1 in 10,000 and it’s typically referred to as ‘Classical type AMC.’ This is considered the non-genetic form of AMC, meaning there has been no mutation in the genes to cause the condition to be present, and is not passed down from the parents.
Common traits of people with Amyoplasia are:
Affected in both arms and legs, and often the spine
Internally rotated shoulders
Extended elbows
Flexed wrists
Contractors of the fingers
Lower limbs can be stuck in various positions
Hips can have flexion/abduction/external rotational contractures (Buddha position or frog position)
Dislocated hips (about 30%)
Hip extension contractures (less common)
Flexion contractures of the knees
Extension contractures of the knees (less common)
Club feet
About 10% affected individuals may have squashed or missing fingers and toes. (less common)
Scoliosis (20-30%)
Splotchy red mark on the face (stork bite)
About 10% of Amyoplasia cases individuals may have abdominal abnormalities such as gastroschisis. Gastroschisis is a condition in which a hole is present in the wall of the abdomen allowing the intestines to intrude out of the abdominal space. (less common)
Normal or above average intelligence
References:
Amyoplasia – Arthrogryposis A Text Atlas. By: Judith G Hall MD, Lynn T Staheli MD, Kenneth M Jaffe MD, Diane O Paholke.
Amyoplaisia Revisited. By: Dr. Judith Hall
People with distal arthrogryposis (DA) are primarily affected in the hands and feet. Other areas and body functions can be affected depending on what type one has. There are currently 20+ different types of DA all of which are linked back to genetic mutations. The best way to learn about you or your child’s specific type is to discuss it with health care providers and people in the AMC community. Here are a few of the more common types of distal arthrogryposis.
Type 1 is characterized by joint deformities that restrict movement in the hands and feet.
Facial sparing
Multiple contractures in hands and feet
Clenched hands
Overlapping fingers
A hand deformity in which all of the fingers are angled outward toward the little finger. This is called ulnar deviation
Hips and knees can be affected but it is less common and usually mild
Club feet
Freeman-Sheldon Syndrome primarily affects the hands, feet and face. Distinctive facial features such as a small mouth, with purse lips give the appearance of a whistling face, hence also being called “Whistling Face Syndrome”.
Common traits of Freeman-Sheldon Syndrome are:
Prominent forehead and brow ridges
Widely spaced eyes
Deep set eyes
Outside corner of the eyes that point downward
Narrowing of the eye openings
Droopy eye lids
Eyes that do not look in the same direction
Sunken appearance of the middle of the face
Short nose and a long area between the nose and the mouth
Deep folds in the skin between the nose and lips
Full cheeks
Small mouth with pursed lips
Chin dimple shaped like an H or a V
Small tongue and jaw and a high arch in the roof of the mouth
Difficulty swallowing
Multiple contractors in hands and feet
A hand deformity in which all of the fingers are angled outward toward the little finger. This is called ulnar deviation.
Club feet
Spine that curves to the side (scoliosis)
Failure to gain weight and grow at expected weight
Respiratory complications
Speech problems
Hearing loss
Malignant hyperthermia (MH) is a condition where people have negative reactions to certain drugs used during general anesthesia. If it is of concern you can speak to your doctor about avoiding the use of succinylcholine during general anesthesia.
Sheldon-Hall Syndrome is similar to Freeman Sheldon Syndrome in that both have joint contractures of various areas of the body. However there are enough differences between the two that they are considered separate conditions.
Common traits of Sheldon-Hall Syndrome are:
Triangular shaped face
Outside corner of the eyes that point downward
Deep folds in the skin between the nose and lips
Attached ear lobes
Small mouth with pursed lips
High arched roof of the mouth
Extra folds of skin on the neck
Permanently bent fingers and toes
Overlapping fingers
A hand deformity in which all of the fingers are angled outward toward the little finger. This is called ulnar deviation.
Club feet
Vertical talus deformity
Beals syndrome is also known as congenital contractural archnodactyly (CCA) and has many of the same features as Marfan Syndrome. While Beals and Marfan share similar features they are also very distinct in the way they affect a person so it is important to obtain a accurate diagnosis so appropriate treatment can be given.
Common traits of Beals syndrome are:
Abnormally shaped ears resulting in a crumpled appearance
Unusually small jaw and or high arched palate
Abnormal short neck
Rounded upper back
Chest sinks in or sticks out
Long narrow body type with long limbs
Abnormally long slender fingers and toes
Joints being stuck in a permanent flexed position
Contractors in elbows and hands
Contractures in feet
Club feet
Contractures affecting the hips, knees and ankles
Curved spine (scoliosis)
Backward or lateral curved spine
Reduced bone mass
Underdeveloped muscles
Cardiovascular complications. It is recommended that those with Beals Syndrome have their heart monitored yearly as a precaution because on occasion heart issues like aortic enlargement or mitral valve regurgitation can occur.
This site is not intended to provide diagnosis, treatment or medical advice. It is for informational purposes only and is not intended to take the place of a trained medial professional who knows the details of your medical history. Readers are advised to consult with a physician or other qualified health professional regarding any treatment.
Internal Rotation of the Shoulders
Extension or Flexion Contractures of the Elbow
Flexion Contractures of the Wrists
Thumb in Palm
Extension or Flexion Contractures of Individual Fingers
Therapy
Occupational Therapy (OT) and/ or Physical Therapy (PT) should begin as soon as possible to increase passive range of motion (ROM). This can be done through a clinic or at home with your local Early Intervention Provider. Either way you should be taught stretches to do at home with your child. The first year is crucial to gain range back in any joint. Here are some representative common stretches to try. Always speak to your child’s health care professional before starting any kind of new routine. Read more about different Types of Therapy.
Stretches
A therapist should evaluate and identify joints requiring therapeutic attention, and then teach the caregiver how to correctly stretch the joints. The caregiver should practice stretching under supervision to insure proper technique to prevent accidental injuries, and to under exercise expectations. Issues such as previous surgeries, medication, bone density, etc., must be considered. Ranges of motion (ROM) exercises are individualized for each persons’ needs and should be directed by a therapist or a doctor. When performing stretches with a child, it is important to have the activity be fun and functional. Action songs, feeding, and dressing activities are all opportunities to naturally encourage upper body ROM activities.
Orthotic Management
Supporting the wrists in the best possible alignment should start as early as possible. Splinting the wrists and hands in infancy allows the soft tissue to lengthen and takes advantage of the infant’s flexibility. Splints may also be recommended for elbow or shoulder as well. Splints come in a wide variety of materials and shapes to help meet the individual’s specific needs. Sometimes several different orthotics are recommended at the same time, allowing greater stretch during inactive portions of the day while greater opportunity for functional activities at active times of the day. Here are some examples of types of upper extremity orthotics one may encounter:
Dynamic Splints: Dynamic splints push the joint into greater stretch when the limb relaxes. These orthotics typically are heavy and bulky so are not typically used for very small children. Dynamic splints are best used for joints that only move in one place such as an elbow. Some of the brands associated with this type of passive stretching include:
Bamboo Splint – a dynamic elbow splint for children with special needs that encourages extension of the elbow at more favorable angles in order to learn gross and fine motor skills as well as prevent undesired (oral/facial) interaction. Learn more: Bamboo Brace
Dyansplint – stretches joints that are lacking range of motion. Learn more: Dynasplint
JAS: Joint Active System- This is a device used to progressively gain range of motion but is used most frequently with individuals that have larger extremities. Learn more: Joint Active Systems
Ultraflex- Learn more: Ultraflex Systems
Static Splints: Static Splints are designed to hold an extremity or a joint at the same angle each time the brace is put on. It may be designed to allow support, holding the joints for stability while allowing functional tasks or for stretch, holding the joint at end range alignment while the person relaxes in the stretch. Some examples of static splints are as follows:
Benik – Soft neoprene splints with a metal bar that can be manipulated to provide different amounts of stretch. Learn more: Benik
Bivalved cast: The limb is casted using plaster and/ or fiberglass casting material. Once hardened, the cast is carefully removed then finished with moleskin and velcro to allow the individual to wear the cast for times of stretch but remove it when it is not needed.
Custom Molded Splints – These are fabricated by an OT, a PT, or an Orthotist. Usually these splints are fabricated out of a thermoplastic material (plastic which is heated to allow it to mold easily) molded directly on the individual’s extremity. Often the splints are secured with velcro straps. These orthotics hold the joint in one position to allow a prolonged stretch
Joe Cool Splint – Thumb abduction splints made of soft, flexible neoprene and have an adjustable hook and loop closure system. They do have a latex component, and they can be hand washed in cold water (line dry). Learn more: Joe Cool
Often with children who have little passive elbow flexion, surgery is recommended. Doctors often recommend an elbow capsular release as early as a year, but usually within the first 5 years of life. This may be delayed to ensure that the child is ambulatory before changing the power of straight elbows. This is a surgery done by releasing the tight fibrous structures in the elbow that constrict movement. After this if a child still does not develop any active flexion or enough functional passive flexion doctors may recommend a muscle transfer to provide elbow bending (flexion). This depends on the quality of the donor muscles as well. Common muscles used are the muscle from the back (latissimus dorsi), or a part of the triceps (referred to as a split triceps transfer). Most doctors will not perform this surgery on children under 4 or 5, because the child needs to participate in the therapy following the surgery to re-train the muscle motion, wear splints to protect the transfer, etc. Every doctor is different in how aggressively they treat upper extremity problems. Some doctors do not believe this surgery is effective at all and may not offer this as an option to their patients. In addition there are also several hand surgeries that can be performed. For children with a serious flexion contracture in their wrists a small triangular wedge of bone (wedge osteotomy) can be removed to bring the wrist to a more neutral resting position. There are also surgeries for thumb-in-palm, if extremely severe, and various finger surgeries. With the future of needing thumb position for management of touch screens and electronic devices for text messaging, thumb alignment is being looked at more critically than it ever before, in order to maximize long term function.
Common contractures of the legs present at birth
Clubfeet or vertical talus,
Dislocated hips,
Externally rotated femurs
Flexion or extension contractures Of the knees
Therapy
Occupational Therapy (OT) and/ or Physical Therapy (PT) should begin as soon as possible to increase passive range of motion (ROM). This can be done through a clinic or at home with your local Early Intervention Provider. Either way you should be taught stretches to do at home with your child. The first year is crucial to gain range back in any joint. Here are some representative common stretches to try. Always speak to your child’s health care professional before starting any kind of new routine. Read more about different Types of Therapy.
Stretches
A therapist should evaluate and identify joints requiring therapeutic attention, and then teach the caregiver how to correctly stretch the joints. The caregiver should practice stretching under supervision to insure proper technique to prevent accidental injuries, and to under exercise expectations. Issues such as previous surgeries, medication, bone density, etc., must be considered. Ranges of motion (ROM) exercises are individualized for each persons’ needs and should be directed by a therapist or a doctor. When performing stretches with a child, it is important to have the activity be fun and functional. Action songs, feeding, and dressing activities are all opportunities to naturally encourage upper body ROM activities.
We are researching orthotic management and surgeries for lower extremities. Please check back soon.
This category is one of the most complex due to the fact that there are over 250 different diagnosis. Anything that is not Distal or Amyoplasia AMC goes into everything else category.
These include,but not limited too:
Pterygium syndromes
Lethal conditions
Atypical AMC
Pterygium syndrome is a congenital condition where webbing of the skin occurs around the joints causing a lack of muscle movement which then causes muscle weakness and joint contractures. Escobar syndrome and Lethal multiple pterygium syndrome are a few pterygium syndromes that are connected to AMC. Escobar type multiple pterygium syndrome (Escobar syndrome). There are different types of pterygium syndromes, Escobar being one of the more common types.
Common traits of Escobar syndrome are:
Webbing of the skin that affects
Skin on the neck
Fingers
Forearms
Inner thighs
Backs of knees
Other Features
Droopy eye lids
Outside corners of the eyes point downward
Skin folds covering the inner corner of the eyes
Low set ears
Small jaw
Arms and legs that cannot fully extend
Scoliosis
Respiratory distress at birth due to underdeveloped lungs
Males can have undescended testes
Lethal multiple pterygium syndrome is tragically individuals with this form of multiple pterygium syndrome typically do not make it past the 2nd or 3rd trimester of pregnancy.
Common traits of Lethal multiple pterygium syndrome are:
Abnormally small head
An opening in the roof of the mouth which is called cleft palet
Fluid filled sac typically found on the back of the neck
Excessive fluid in the body
Severe multiple contractors
Underdevelopment of the heart, lungs, or brain
Twisting of the intestines
Kidney abnormalities
A hole in the muscle that separates the abdomen from the chest cavity
Lethal multiple pterygium syndrome also falls under the Lethal conditions subgroup in the Everything else category.
Tragically it is estimated that 1/3 of babies born with AMC will either be still born or die during their first year of life. There are several forms of AMC that can be deadly. As mentioned above Lethal Multiple pterygium syndrome is one. Another is Cerebro-oculo-facio-skeletal (COFS) as well as Restrictive dermopathy. Cerebro-oculo-facio-skeletal syndrome (COFS) . People with COFS will progressively deteriorate and sadly many times will not survive past 7 years old.
Common traits of COFS can be:
Extremely small head
Abnormally small eyes
Clouding of the eyes lens (cataract)
Horizontally narrow opening between the eye lids
Unusually prominent nose
Abnormally large ears
Upper lip over lapping lower lip
Abnormally long groove in upper lip
Unusually small jaw
Elbows with flexion contractures
One line in the palm of the hand formed by the fusion of two lines
Hip deformities
Knees with flexion contractures
Congenital vertical talus deformity (rocker bottom)
Grove over the length of the soles of the feet
Osteoporosis
Lack of muscle tone
Feeding difficulties
Vulnerability to respiratory infections
Failure to thrive
Developmental retardation
Restrictive dermopathy – Restrictive dermopathy is a lethal genetic skin condition that is connected to AMC. Unfortunately most born with Restrictive dermopathy will not make it past the first week of life.
Common traits of Restrictive dermopathy are:
delayed and stunted prenatal growth
reduced fetal movements
excessive amount of amniotic fluid
premature rupture of the membranes
thin tight skin
translucent skin
skin with damage at body parts that bend
facial dysmorphism
joint ankylosis (stiffness or fixation of joints and/or union of separate bones to
form a single bone)
death with in the first week of life
Atypical AMC is a term used to describe individuals with a unknown type of AMC. AMC is rare and highly complex and it can take years for certain people to receive the diagnosis that caused AMC, and some may never receive a diagnosis at all. This can be a very long and frustrating journey for many families seeking answers about their loved ones with AMC, or a AMCer seeking answers for themselves.
AMCSI can connect you with support groups, other parents and caregivers through social media, mini-meet ups, and the yearly AMC conference. This will give you an enormous amount of moral support and also ideas for tools and adaptive equipment to help you or your child along.
AMC is a rare condition and it’s important to find an experienced doctor that will effectively treat you or your child. Whether you are Atypical or have a diagnosis you will need treatment and support groups are an excellent place to connect with others who can lead you in the right direction.
Arthrogryposis Multiplex Congenita Support Inc. (AMCSI)
P.O. Box 6291
Spartanburg, SC 29304
1-805-55-AMCSI (1-805-552-6274) | info@amcsupport.org
Arthrogryposis Multiplex Congenita Support, Inc. is a 501(c)(3) tax-exempt organization.
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