Arthrogryposis Multiplex Congenital (AMC)
It is of an unknown cause congenital neuromuscular disease, which is not considered genetic or inherited in general, with some exceptions that are inherited. It is presented in 1: 3000 births worldwide and is characterized by limited movement in two or more joints and stiffness. These symptoms are due to contractures that occur during embryonic or post birth. It can affect any joints and symptoms that occur to each patient are unique. There are over 400 types categorized individually, with the main types being:
- Arthrogryposis with limb blockage
Amyoplasia Usually occurs at all four limbs tangled, distorted, internally turned shoulders, stretched elbows, bent wrists and fingertips. Babies with amyoplasia are dynamic, communicative and do not experience mental retardation. Older children do not develop properly. Its frequency is 1: 10,000 births per year.
Distal type I – It is characterized by overlapping fingers, tightened punches, contractures in fingers, arms and legs. Typical distant points of the body are affected, with the knees and hips usually involved. These are orthopedic anomalies that respond therapeutically and are inherited in an autosomal pattern.
Beal’s syndrome – known as Distal Type II Arthrogryposis. It looks like Marfan syndrome, but there are no cardiovascular or ocular problems. People with this syndrome are tall and thin, with multiple contractures in the joints and a characteristic form of ear (“ruptured”).
- Arthrogryposis in extremities and other parts of the body (Flap Syndromes)
Flap resembles a membrane that develops between neck, knee, elbow. There are also contractures. Each of the syndromes is inherited autosomally either in a recessive or dominant pattern and is lethal. A common type is Escobar, with abnormalities in the neck, sternum, sternum and jaw blades, and face deformities.
This category also includes Freeman-Sheldon syndrome, where all the extremities are affected and other parts of the body with a large, characteristic front and a small mouth (“like whispering”). Also presenting kyphosis, scoliosis, growth problems, inguinal hernias, cryptorchidism.
Osteochondrodysplasia – There is a characteristic arthrogryposis presentation with disproportionately low stature.
Distal Type IIB Arthrogryposis – Autosomal dominantly inherited and presents with tight muscles, thin skin, reduced eye movement (ophthalmoplegia).
- Limb Arthrogryposis – Central Nervous System
Cerebrooculofacioskeletal Syndrome (COFS) – it is a degenerative disease in which nerve cells do not mature. It is inherited in an autosomal recessive pattern and is lethal. Microcephaly, cerebral structural abnormalities, abnormalities in eyes and hears, hypotonia, small jaws and multiple contractures are present.
Restrictive Dermatopathy – It is a familial and hereditary disease with high mortality, where the skin does not develop properly from endometrial life.
Management
- Hydrotherapy: Contributes to increased mobility, muscle strength, flexibility and improves orientation, ensures proper body posture and proper cardiac function, as well as pain reduction.
- Horse riding: Provides improved orientation and abnormal muscle tone, body posture, movement and balance.
- Physiotherapy: With appropriate stretches and generally wide range of exercises, movement, support and empowerment are improved.
- Occupational Therapy: Contributes to everyday activities such as diet, clothing, empowerment and writing.
To follow-up clinical trials on the disease visit: https://clinicaltrials.gov/ct2/home
References
- ARTHROGRYPOSIS MULTIPLEX CONGENITA SUPPORT, Inc. | amcsupport, http://amcsupport.org/types-of-arthrogryposis/
- NORD (National Organization for Rare Disorders), Rare diseases, https://rarediseases.org/rare-diseases/arthrogryposis-multiplex-congenita/
- U.S. Department of Health & Human Services – National Institutes of Health, NCATS, https://rarediseases.info.nih.gov/diseases/777/arthrogryposis-multiplex-congenita