Pictures of arthrogryposis

Arthrogryposis is a rare congenital disease whose symptoms are joint deformities and stiffness. Damien Abad, Minister of Solidarity, Autonomy and Disabled People in the Government of Elisabeth Borne, would be affected. Cause, heredity, treatment, life expectancy…

[Mis à jour le 15 juin 2022 à 10h36] Arthrogryposis is a rare congenital disease which is manifested by joint deformities and stiffness, as well as neuromotor impairments. Damien Abad, appointed Minister of Solidarity, Autonomy and People with Disabilities from Government of Elisabeth Borne would be affected. He mentioned in particular, in a portrait relayed by INA of a “disability“of which he has”is a strength“. In an exclusive interview with Le Progrès in the context of charges brought against him in May 2022, Damien Abad evokes “his physical condition to justify that a number of things [lui] are sexually impossible“. Implicated for sexual violence, Damien Abad would be targeted by new accusations from a woman who testifies to having suffered an attempted rape in 2010, according to her account published on June 14 on Mediapart. What is this disease? What are its main symptoms ? Which is the cause ? The treatment ? Is it hereditary? Lighting.

Definition: what is arthrogryposis?

The word arthrogryposis comes from the Greek “arthron” which means “joint” and “gryposis” which means “twisted” or “distorted”. Arthrogryposis (also called fetal immobility syndrome) is a rare congenital disease. It is therefore present from birth and causes a motor disability (neuro-motor deficiencies, deformities and stiffness of joints…) which can be more or less important from one person to another.

What is arthrogryposis multiplex congenita?

We’re talking aboutcongenital arthrogryposis multiplex (AMC) whenat least two types of joints different are concerned (foot and knee for example, foot and hand…).

What is distal arthrogryposis?

Distal arthrogryposis affects hands and feet, but not large joints like the hip for example.

How common is arthrogryposis?

The estimated prevalence of arthrogryposis is 1/3000 to 1/12000 depending on the studies (Darin et al., 2002; Lowry et al., 2010). It is therefore a rare condition.

Photos: examples of arthrogryposis in children

Pictures of arthrogryposis © Photos of arthrogryposis © Haute Autorité de Santé – National Protocol for Diagnosis and Care (PNDS) Congenital multiple arthrogryposis

What are the symptoms of arthrogryposis?

Arthrogryposis is a disease that can cause:

  • Of the joint stiffness with reduced range of motion
  • Of the deformities or malpositions of the lower or upper limbs (foot, hand, knee, hip, elbow, shoulder…): Clubfoot
  • A decrease in muscle strength
  • A rounded face, often with diminished expression
  • Of the neuromotor impairments, without neuro-cerebral damage
  • Sometimes, the presence of other malformative abnormalities (cardiopathy, pulmonary or digestive damage, facial abnormalities, etc.) or spinal damage such as scoliosis.

The handicap caused by this disease is more or less important according to the patients: “some can carry out the gestures of daily life, others are in a wheelchair, others only move their heads“, indicates theRare Diseases Alliance Association.

Does arthrogryposis cause clubfoot?

The most common aspect of arthrogryposis is the Clubfoot (the foot is malformed, turned inwards and the calf poorly developed)

Club foot in babies
Club foot in babies © rumruay – stock.adobe.com

What is the cause of arthrogryposis?

Arthrogryposis may be linked to reduced fetal movement during pregnancy

Arthrogryposis is linked to a decrease in the movements of the fetus during pregnancy, itself potentially due to an insufficient amount of amniotic liquida condition of the mother (such as multiple sclerosis for example) or a genetic disorder affecting the baby’s ability to move when it is in the uterus (muscular dystrophy, connective tissue abnormality…). Gold, “the appearance of the movement is crucial to the constitution of the joints in the limbs and the spine. The establishment of musculoskeletal structures in humans coinciding with the onset of movement, indicates the High Authority for Health in a 2021 report on congenital arthrogryposis multiplex. The absence of movement can thus constitute a cause of absence of formation of the joints. and be secondary to several abnormalities of the neuromuscular system

Is arthrogryposis hereditary?

Arthrogryposis is a condition not hereditarypresent from birth (congenital).

What is the course of arthrogryposis?

Congenital arthrogryposis is not a progressive pathology, but the disease which is in question (such as muscular dystrophy, for example) can evolve.

The diagnosis of arthrogryposis is based on:

Antenatal ultrasound screening. Call points that may raise suspicion of arthrogryposis are:

  • Decreased fetal movement/fetal hypo- or akinesia
  • Malposition of one or more limbs
  • The presence of one or more pterygia (joint contracture and multiple soft tissue networks)
  • The presence of anamnios/oligoamnios or polyhydramnios (abnormalities in the amount of amniotic fluid)

If abnormal limbs are seen, doctors may do ultrasounds of other parts of the fetus’ body or genetic analysis on the fetus usingchorionic villus sampling or a amniocentesis. A muscle biopsy and an electromyography (EMG) can be performed to distinguish the type of arthrogryposis.

► A postnatal clinical examination

  • Presence of movement limitations at distinct joint levels
  • Presence of other associated clinical signs (hypotonia, organ malformations, epilepsy, respiratory distress, etc.).
  • Low set ears, arched palate or even cleft palate, short neck.
  • Hip dislocation, club foot…

► Blood test with serum Creatine phosphokinase (CPK) assay (used as a diagnostic biomarker for neuromuscular diseases, and more specifically for muscular dystrophies)

► Malformative assessment:

  • Echocardiography
  • Abdominal ultrasound
  • Ophthalmological examinations

Who is the doctor specializing in arthrogryposis?

Doctors specializing in arthrogryposis are:

  • Doctors of Physical Medicine and Rehabilitation and Pediatrics
  • The medical geneticists
  • orthopedic surgeons

What is the treatment for arthrogryposis?

The treatment is based on physiotherapy (rehabilitation) and functional orthoses (for example night splints keeping the limb in good position), on corrective casts for deformities of the feet and knees and on surgery for hip dislocations.

What is the life expectancy in case of arthrogryposis?

The mortality of a baby with arthrogryposis can reach 40% during the first year of life. After this first year, life is normalwith despite everything a physical handicap (more or less heavy) and repercussions on daily life.

Sources: Article by Georges Filipe: Professor, Armand-Trouseau Children’s Hospital, Medical Encyclopedia / Alliance Maladies Rares Association / Arthrogryposis Association / Study Arthrogryposis: clinical manifestations and treatment, Archives de Pédiatrie (2015) / Congenital multiple arthrogryposis, HAS (2021)

Leave a Reply