(Congenital Amyoplasia, congenital stiffness, myodysplasia, constitutional myodystrophy)

Estimated prevalence: 1/3000 to 1/10,000. Generic term meaning "hook joints" (from the Greek: arthron- joint and gryposis- curved). The term of multiple arthrogryposis is used in case of non-progressive contractures of joints in at least two different parts of the body; distal arthrogryposis refers to contractures limited to distal joints. Often symmetrical multiple contractures, affecting especially the distal extremities. Sometimes, syndactyly, radio-ulnar synostosis, periarticular webs (pterygium's). Contracture of large joints is common: it can be accompanied by amyotrophy. The temporomandibular joint can be affected.

Sometimes: scoliosis, instability of the atlas-axis joint, or fusion of cervical vertebrae.

The cause of arthrogryposis multiplex could be a decrease of the mobility of the fetus the origin of which can be:

-         neurological: Pena Shokeir syndrome type II, sacral agenesis , holoprosencephaly, trisomy 18

-         muscular: X-linked spinal muscular atrophy muscular dystrophy

-         tissular: Beals and Larssen syndromes, multiple pterygium's syndrome

-         exogenous: obstetrical: oligohydramnios, uterine malformation; infection in utero; toxic. 

With regard to the distal arthrogryposes, many types have been identified:

-        distal arthrogryposis type 1:  hand (camptodactyly) and foot (clubfoot) involvement, overlapping fingers, hooked hands.
       Neurological development is normal and response to physiotherapy is good.

-        DA1A: autosomal dominant transmission (chromosome 9) (MIM 108,120; 126,050, 614,335, 618,435) also known as digito-astragalar dysmorphism; other mutations of this gene produce nemaline myopathy type 4.

-        DA1B: autosomal dominant transmission of a mutation of the MYBPC1 gene (12q23) [MIM 614 335]; other mutations of this gene produce congenital myopathy with tremor (see this term)

-        DA1C: mutation of the MYLPF gene (16p11) [MIM 619 110]: contractures (large joints), short stature, segmental amyoplasia, scoliosis

-        distal arthrogryposis type 2: heterogeneous group, where contractures are associated with other anomalies:

-        DA2A: autosomal dominant transmission of a mutation of the MYH3 gene (17p13.1) or Freeman-Burian syndrome [MIM 193,700]; an autosomal recessive form, called Illum syndrome, has been described [MIM 208,155]

-        DA2B1: heterozygous mutation of the TNNI2 gene (11p15.5): Sheldon-Hall syndrome, which is a variant of Freeman-Sheldon syndrome; ulnar deviation of the fingers, camptodactyly, triangular facies, small mouth with prominent chin (MIM 601 680)

-        DA2B2: mutation of the TNNT3 gene (11p15.5) [MIM 618 435]

-        DA2B3: mutation of the MYH3 gene (17p13.1) [MIM 618 436] which may be the cause of Freeman-Burian or Sheldon-Hall syndrome (see these terms).

-        DA2B4: mutation of the TPM2 gene (9p13.3): probably a variant of DA1A

-        distal arthrogryposis type 3 (DA3): mutation of the PIEZO2 gene (18p11.22) or Gordon syndrome: associated with cleft palate, short stature, ptosis and asymmetric face (MIM 114 300)

-        distal arthrogryposis type 4 (DA4): distal arthrogryposis associated with scoliosis (MIM 609 128)

-        distal arthrogryposis type 5 (DA5): mutation of the PIEZO2 gene (18p11) or oculomelic amyoplasia; distal arthrogryposis associated with short stature, short neck, ptosis (sometimes ophthalmoplegia and/or strabismus) and an immobile facies (MIM 108 145)

-        DA5D: mutation of the ECEL1 gene (2q36) [MIM 615 065]: camptodactyly, club feet, contracture of the knees in extension, unilateral ptosis, round face, micrognathia

-        distal arthrogryposis type 6 (DA6): distal arthrogryposis associated with deafness (MIM 108 200)

-        distal arthrogryposis type 7 (DA7): mutation of the MYH8 gene (7p13.1) or Hecht syndrome (MIM 158 300): trismus and camptodactyly

-        distal arthrogryposis type 8 (DA8): has been reclassified as multiple pterygia syndrome (MIM 178 110)

-        distal arthrogryposis type 9 (DA9): mutation of the FBN2 gene (5q23) or arachnodactyly with contractures (Beals syndrome) (MIM 121 050)

-        distal arthrogryposis type 10 (DA10): mutation at 2q31.3, congenital contracture of the calcaneal tendon (MIM 187 370)

Anesthetic implications: 

Difficult peripheral and central venous access  (contractures, periarticular webs). Risk of difficult intubation (micrognathia, ankylosis of the TMJ). Risk of hemodynamic instability during anesthesia. Carefully positioning the child. Theorically: no succinylcholine: risk of hyperkalemia ? Classically, a hypermetabolic response during anesthesia is possible but without any association with malignant hyperthermia: this has been confirmed in a study of 45 patients with multiple arthrogryposis having received 264 general anesthesias. Sometimes mental retardation or epilepsy. Potential  difficulties to achieve a peripheral nerve block with a neurostimulator (muscle contractures, anatomical variants) or ultrasound (abnormal echogenicity of muscle fibrosis). Difficult neuraxial block in case of scoliosis. Echocardiography to exclude a pulmonary hypertension in case of restrictive syndrome.

References : 

• Nguyen NH, Morvant EM, Mayhew JF. 
  Anesthetic management for patients with arthrogryposis multiplex congenita and severe micrognathia: case reports. 
  J Clin Anesth 2000; 12:227-30.
• Hopkins PM, Ellis FR, Halsall PJ. 
  Hypermetabolism in arthrogryposis multiplex congenita. 
  Anaesthesia 1991; 46:374-5.
• Kanaya N, Nakayama M, Nakae Y, Kobayashi I, Tsuchida H, Namiki A. 
   Hyperthermia during sevoflurane anaesthesia in arthrogryposis multiplex congenita with central nervous system dysfunction. 
  Paediatr Anaesth 1996; 6:428-9.
• Zamudio IA, Brown TCK. Arthrogryposis multiplex congenita (AMC): a review of 32 years' experience. 
  Paediatr Anaesth 1993; 3:101-6.
• Martin S, Tobias JD. 
  Perioperative care of the child with arthrogryposis. 
  Pediatr Anesth 2006; 16: 31-7.
• Benca J, Hogan K, 
  Malignant hyperthermia, coexisting disorders, and enzymopathies : risks and management options.
  Anesth Analg 2009; 109: 1049-53.
• Ponde V, Desai AP, Shah D. 
  Comparison of success rate of ultrasound-guided sciatic and femoral nerve block and neurostimulation in children with arthrogryposis multiplex congenita: a randomized clinical trial. 
  Pediatr Anesth 2013; 23: 74-8.
• Chowduri R, Samui S, Kundu AK. 
  Anesthetic management of a neonate with arthrogryposis multiplex congenital for emergency laparotomy. 
  J Anaesth Clin Pharmacol 2011: 27: 244-6.
• Borazan H, Uluer MS, Sahin O, Okesli S. 
  Regional anesthesia with a single spinal anesthesia using hyperbaric bupivacaine in a child with arthrogryposis multiplex congenital. 
  J Anesth 2012; 26: 283-5.
• Gleich SJ, Tien M, Schroeder DR, Hanson AC, Flick R, Nemergut ME.
  Anesthetic outcomes of children with arthrogryposis syndromes : no evidence of hyperthermia.
  Anesth Analg 2017; 124:908-914

Updated: July 2024