Arthrogryposis multiplex congenita

Arthrogryposis (synonyms: arthrogryposis multiplex congenita (AMC), multiple joint contracture syndrome, amyoplasia congenita, arthrogryposis universalis congenita ) is a comprehensive syndrome characterized by non-progressive multiple joint contractures (congenital joint stiffness) caused by muscle fibrosis and shortening and thickening of the joint capsule and ligaments.

Etiopathogenesis
By affecting the soft tissues of the joint, it leads to a concentric limitation of the movement of the joints of the limbs. The basis is probably a binder failure, the actual cause is unknown.

(note: Fetal akinesia due to various fetal or maternal abnormalities, neurotrophic disorders caused by ganglion cell differentiation disorders, or primary muscle aplasia is considered.)

In the course of the disease, fibrous joint changes of the joint capsules appear with the development of contractures. There are also progressive forms that are lethal.

Classification

 * According to probable cause
 * neuropathic form (95%) – accompanied by degeneration of the cells of the anterior horns of the spinal cord (lack of neurotrophic influence → lack of muscle development, amyoplasia), non-genetically linked
 * myopathic form (5%) - primary breakdown of muscle fibers, genetically linked
 * According to anatomical involvement (Brown et al.)
 * type I and II – impairment of upper limbs (segments C5–C8), elbows in extension (type I, does not eat) / in flexion ( type II)
 * type III' to VIII - involvement of the lower limbs (lumbosacral segments)
 * Complex division according to Hall
 * group 1 - predominantly limb involvement (main focus of treatment, incidence 1:10,000)
 * group 2 - involvement of limbs and visceral organs, craniofacial malformation
 * group 3 - involvement of limbs and CNS (fatal in early childhood)
 * Another used division
 * distal arthrogryposis - affects the peripheral parts of the limbs, hereditary
 * classic arthrogryposis - affects large joints

Clinical picture
It manifests itself in varying degrees of "stiffness of the joints of the limbs", mainly of the hip, knee, wrist and hand joints. Stiffness is not caused by primary joint changes, but by muscle changes (see above). Children's appearance can be compared to wooden dolls. The contours of the limbs are elongated, cylindrical, with accentuated skin eyelashes. There is a weakening of muscle and joint relief (amyoplasia), reduction of subcutaneous fat .Joints affected symmetrically .Upper and lower limbs mostly affected (tetramel form). Hearing and intelligence are usually normal.

They are often associated with pedes equinovari, luxation of the hip, outstretched upper limbs, ' ``waiter-tip wrist position''.

We distinguish between the "flexion" type (joints stiff in flexion) and "extension" joints stiff in extension, most common on the upper limb. Limitation of movement during joint contractures (more pronounced distally), fine motor skills preserved.

Stationary changes begin to manifest after childbirth, they do not show a tendency to spontaneous improvement or deterioration.

X-ray image
Initially, the finding is negative. Later we observe a 'narrowing of the joint spaces up to joint ankylosis.

Therapy
Treatment of extension contractures of the upper limbs: Conservative (splitting) or surgical therapy (dorsal release of the elbow joint) with the aim of obtaining passive flexion of the elbow greater than 90°. The goal is to restore active elbow flexion while maintaining sufficient extension for hygienic tasks. The so-called "tendon transfers" are performed, i.e. the bilateral transposition of three fifths of the "M. pectoralis major instead of M. biceps brachii and M. brachialis'' (fixation of the transferred parts into the M. flexor carpi ulnaris tendon) by modifying Clark's operation according to Chomiak and Dungl 2002, 2003.
 * rehabilitation - exercises, positioning, loosening of joints, improvement of muscle strength, casting, application of orthoses and corrective splints
 * arthrolysis, osteotomy - Ch. elbow ankylosis in extension
 * 'primary task is to ensure walking within 18 months
 * then we try to ensure 'self-sufficiency in food, hygiene and dressing (upper limb surgery around 4 years of age)

Differential diagnosis

 * multiple pterygium syndrome
 * Freeman-Sheldon Syndrome
 * Baels Syndrome
 * diastrophic dwarfism

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