Arthrogryposis multiplex congenita

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Classification according to ICD-10
Q74.3 Arthrogryposis multiplex congenita
ICD-10 online (WHO version 2019)

Under arthrogryposis multiplex congenita (AMC) a congenital is joint stiffness (dysmorphia) understood. The term stands for the state picture. The AMC develops at the time of organogenesis , towards the end of the first three months of pregnancy (8th to 11th week of pregnancy). It can affect individual joints and, as an extended form, lead to several joints and even involve organs and the brain . There are changes in the muscles , tendons and above all in the connective tissue with consequences for the joint capsules and the mobility of the joints.

The term AMC describes a clinical picture or a group of diseases with very different characteristics.

Synonyms are: arthrogryposis; Guérin-Stern Syndrome; Rossi Syndrome; Arthromyodysplasia, congenital; Congenital amyoplasia; Multiple congenital arthrogryposis; Myodysplasia; Latin Myodystrophia fetalis deformans; Amyoplasia congenita; Arthromyodysplasia congenita ; English Otto syndrome; Rocher-Sheldon syndrome

distribution

The frequency is given as 1–9 in 100,000 (with one in 3000 births).

Manifestations

Although the individual manifestation of the clinical picture can be very different, the symptoms are apparent immediately after birth. As a typical feature, however, the stiffening (so-called contractures ) can be described, from which all joints can be affected and which occur in all directions of movement. The skin stretched over the fully extended joint (for example the elbow) has no folds of skin on the flexor side. In contrast, pits typically form on the extensor side . The muscles of the affected joints are underdeveloped and therefore powerless.

The most common malformations affect the upper and lower extremities : shoulder joint with restricted mobility, elbow joint stiffened in a flexed or often extended position, wrist often with a typical outward development, fingers individually or all bent and / or stiff, thumbs often crushed to the palm of the hand. Deformities of the hip joint occur in over 80 percent of those affected . The knee joint exhibits flexion contractures in over 60 percent of cases. Club feet often occur , and more rarely flat , pointed or hook feet . In severe cases, there are malformations of the spine, so-called pronounced scolioses .

causes

The actual cause for the occurrence of the malformations is diverse and is often determined by several influences . Certain forms of AMC are caused by a point mutation in the ZC4H2 gene ( zinc finger gene ). In addition to genetic causes, external disruptive factors such as prenatal diseases caused by pathogens ( infections ), drugs, and cerebral palsies can be the cause. Some of those affected are known to have abnormal nerves. Malformations of muscles , tendons and joint capsules occur directly or as a result of the neurological disorder. This inhibits the movement of the joints, deforms the limbs and reduces muscle strength in some areas.

classification

Different types are distinguished depending on the severity of the clinical picture. The so-called "Munich Classification", which goes back to Judith Hall, Seattle, is common.

Type 1

Only the extremities are affected . Depending on the characteristics, a distinction is made between two subgroups:

There are no other disorders or malformations . Mental and sensory development is normal.

Type 2

In addition to the type 1 changes, there are also malformations of various organs ( e.g. abdominal wall , urinary bladder , head , spine ).

Type 3

In addition to the dysmorphism, there are more or less pronounced malformations of the spine and central nervous system , including the most severe malformations.

In the context of syndromes

According to the Orphanet database , arthrogryposis occurs in the following diseases:

  • Arthrogryposis-like symptom , synonym: Kuskokwim disease , mutations in the FKBP10 gene, chromosome 17 q21.2
  • Arthrogryposis - hyperkeratosis, lethal type , synonym: Johnston-Aarons-Schelley syndrome
  • Arthrogryposis due to muscular dystrophy
  • Arthrogryposis, lethal - loss of anterior horn cells , synonyoma: LAAHD , autosomal recessive, mutations in the GLEI1 gene, chromosome 9 q34.11
  • ARC syndrome , synonym: arthrogryposis - renal dysfunction - cholestasis
  • Arthrogryposis multiplex congenita, neurogenic type , autosomal recessive
  • Illum syndrome , synonyms: Arthrogryposis multiplex congenita - Whistling face syndrome, Arthrogryposis multiplex congenita - CNS calcification
  • Thumb, adducted - arthrogryposis, Christian type , autosomal recessive
  • Pena-Shokeir syndrome I , synonyms: fetal akinesia / hypokinesia sequence, arthrogryposis multiplex congenita - pulmonary hypoplasia
  • Wieacker-Wolff syndrome , synonyms: intellectual disability-developmental retardation-contractures syndrome , X-linked recessive
  • Lethal fetal cerebro-reno-urogenital agenesis / hypoplasia syndrome , synonym: Meckel syndrome 12 , autosomal recessive, mutations in the KIF14 gene, chromosome 1 q32.1
  • Marden Walker Syndrome , autosomal dominant
  • Multiple pterygium malignant hyperthermia syndrome , synonyms: Froster-Iskenius-Waterson-Hall syndrome; Malignant hyperthermia-arthrogryposis-torticollis syndrome , autosomal recessive
  • Myogenic Arthrogryposis multiplex congenita, autosomal recessive , synonyms: AMC, myogenic, autosomal recessive; Arthrogryposis multiplex congenita, SYNE1-dependent; SYNE1-dependent AMC , autosomal recessive
  • Myopathy, lethal, congenital, Compton-North type , autosomal recessive, mutations in the CNTN1 gene, chromosome 12 q12
  • Boylan-Dew syndrome , synonym: neuropathy, hypomyelinated - arthrogryposis , autosomal recessive
  • Prenatal onset of spinal muscular atrophy with congenital bone fractures
  • Spinal muscular atrophy, infantile, X-linked , synonyms: Arthrogryposis multiplex congenita, distal X-linked; SMAX2; Spinal muscular atrophy with arthrogryposis; Spinal muscular atrophy, X-linked, type 2 , X-linked recessive, mutations in the UBA1 gene X-chromosome p11.3
  • Van den Ende Gupta Syndrome , synonyms: Marden Walker-like syndrome; VDEGS , autosomal recessive

therapy

Physiotherapy and occupational therapy

Important therapeutic successes at AMC are achieved with physiotherapy and occupational therapy . Treatment should start as early as possible. The stiffened joints can be gradually loosened through passive movement. In addition, therapies on a neurophysiological basis z. B. carried out according to Vojta and Bobath , in which the muscle activities, if available, are stimulated. The improvements that can be achieved with these therapies are particularly great in the first few years. In this way, deformities that arise later can be reduced. A basic program should ensure long-term success.

Orthopedic aids

Orthopedic splints or shoes are helpful for some people with AMC. After operative corrections, the achieved result can be stabilized by splints. Those affected with very weak muscles can learn to walk using light splints. On the other hand, the misaligned joints can not be corrected with so-called whine splints .

Operations

Operations can be performed

  • if those affected are so severely handicapped by the joint misalignment that hands, arms or legs cannot be used adequately

and

  • if the physiotherapy treatment options for the affected joint have been exhausted.

Misalignments are corrected or eliminated to the extent that those affected can use their weak muscles properly.

The most important goal of all orthopedic-surgical measures is to improve the function of the joints and to enable those affected to live as independently and independently as possible.

Self help

The interest group Arthrogryposis (IGA) eV is the self-help organization of those affected by arthrogryposis multiplex congenita and their relatives in German-speaking countries. It was founded in 1992 and today has around 500 members.

The IGA is a member of the Federal Self-Help Working Group , the Baden-Württemberg Self-Help Working Group, the Alliance of Chronic Rare Diseases (ACHSE) and the Social Association VdK Germany .

Medical historical aspects

Otto's drawing of an infant affected by Arthrogryposis multiplex congenita, 1841.

The anatomist Adolph Wilhelm Otto published in his textbook Monstrorum sexcentorum descriptio anatomica in 1841 the first clinical description of a newborn child affected by arthrogryposis multiplex congenita. The first depiction of a sick person is possibly from 1568.

See also

literature

Individual evidence

  1. ↑ a b Arthrogryposis multiplex congenita. In: Orphanet (Rare Disease Database).
  2. ^ Rare Diseases
  3. ↑ Hiromi Hirata et al .: ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity . Am J Hum Gen (2013) vol. 92 pp. 681-695
  4. ↑ H. Bauer, J. Correll, R. Heller, S. Recktenwald: Arthrogryposis multiplex congenita (AMC); 2009, specialist information
  5. ^ Orphanet
  6. ↑ JG Hall: Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. In: Journal of pediatric orthopedics. Part B. Volume 6, Number 3, July 1997, pp. 159-166, PMID 9260643 (Review).
  7. ↑ Arthrogryposis-like symptom. In: Orphanet (Rare Disease Database).
  8. ^ Bruck Syndrome I.  In: Online Mendelian Inheritance in Man . (English)
  9. ↑ Arthrogryposis - hyperkeratosis, lethal type. In: Orphanet (Rare Disease Database).
  10. ↑ Arthrogryposis due to muscular dystrophy. In: Orphanet (Rare Disease Database).
  11. ↑ Arthrogryposis, lethal - loss of anterior horn cells. In: Orphanet (Rare Disease Database).
  12. ^ Arthrogryposis, lethal, with anterior horn cell disease.  In: Online Mendelian Inheritance in Man . (English)
  13. ↑ Arthrogryposis multiplex congenita, neurogenic type. In: Orphanet (Rare Disease Database).
  14. ^ Thumb, adducted arthrogryposis, Christian type. In: Orphanet (Rare Disease Database).
  15. ↑ Lethal fetal cerebro-reno-urogenital agenesis / hypoplasia syndrome. In: Orphanet (Rare Disease Database).
  16. ↑ Meckel syndrome 12th  In: Online Mendelian Inheritance in Man . (English)
  17. ↑ Multiple pterygium malignant hyperthermia syndrome. In: Orphanet (Rare Disease Database).
  18. ↑ Myogenic arthrogryposis multiplex congenita, autosomal recessive. In: Orphanet (Rare Disease Database).
  19. ^ Myopathy, lethal, congenital, Compton-North type. In: Orphanet (Rare Disease Database).
  20. ^ Myopathy, congenital, Compton-North.  In: Online Mendelian Inheritance in Man . (English)
  21. ↑ Prenatal onset of spinal muscular atrophy with congenital bone fractures. In: Orphanet (Rare Disease Database).
  22. ↑ Spinal muscular atrophy, infantile, X-linked. In: Orphanet (Rare Disease Database).
  23. ↑ Spinal muscular atrophy, X-linked 2, infantile.  In: Online Mendelian Inheritance in Man . (English)
  24. ^ Leonard F. Peltier: The classic. A human monster with inwardly curved extremities. By Adolph Wilhelm Otto , 1841. Clin Orthop Relat Res (1985) (194) pp. 4–5, translation of the section on the topic from Otto's Monstrorum sexcentorum descriptio anatomica. , with a short introduction.
  25. ↑ T. Anderson: Earliest evidence for arthrogryposis multiplex congenita or Larsen syndrome? . Am J Med Genet (1997) vol. 71 (2) pp. 127-9 PMID 9217208