Autosomal recessive myogenic arthrogryposis multiplex congenita

What it is

From: Orphanet

Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Arthrogryposis multiplex congenita · Very frequent (99-80%)

Multiple congenital contractures in different body areas.

Bilateral facial palsy · Very frequent (99-80%)

Two-sided or bilateral weakness of the muscles of facial expression and eye closure.

Bilateral talipes equinovarus · Very frequent (99-80%)

Bilateral clubfoot deformity.

Decreased fetal movement · Very frequent (99-80%)

An abnormal reduction in quantity or strength of fetal movements.

Fatiguable weakness of proximal limb muscles · Very frequent (99-80%)

A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.

Generalized neonatal hypotonia · Very frequent (99-80%)

Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature.

Hyporeflexia · Very frequent (99-80%)

Reduction of neurologic reflexes such as the knee-jerk reaction.

Inability to walk · Very frequent (99-80%)

Incapability to ambulate.

Motor delay · Very frequent (99-80%)

A type of Developmental delay characterized by a delay in acquiring motor skills.

Cryptorchidism · Frequent (79-30%)

Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.

Scoliosis · Frequent (79-30%)

The presence of an abnormal lateral curvature of the spine.

Adducted thumb · Occasional (29-5%)

In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.

Depressed nasal bridge · Occasional (29-5%)

Posterior positioning of the nasal root in relation to the overall facial profile for age.

Flat occiput · Occasional (29-5%)

Reduced convexity of the occiput (posterior part of skull).

Other findings in the same source

From: Orphanet

Additional reported features include Flexion contracture of finger (Occasional (29-5%)); Gastrostomy tube feeding in infancy (Occasional (29-5%)); Gowers sign (Occasional (29-5%)); Hand clenching (Occasional (29-5%)); Intellectual disability (Occasional (29-5%)); Long face (Occasional (29-5%)); Long philtrum (Occasional (29-5%)); Macrotia (Occasional (29-5%)); Moderate hypermetropia (Occasional (29-5%)); Postnatal growth retardation (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Neonatal

Inheritance in the source

From: Orphanet

Autosomal recessive

Frequency and the population described

From: Orphanet

Reported family(ies): 1.0; Worldwide. This is a published case count, not prevalence. Point prevalence: <1 / 1 000 000; Worldwide; Class only.

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal recessive pattern usually involves disease-causing changes in both copies of a gene. Parents may each carry one altered copy without having the condition themselves. A genetic counsellor can explain carrier testing and reproductive implications using the actual laboratory findings, rather than the condition name alone.

Which doctor should you see?

The suggested department for discussing Autosomal recessive myogenic arthrogryposis multiplex congenita is Neurology, with a neurologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Which nervous-system findings help explain the symptoms?
• Would an assessment of walking, communication or daily function be helpful?
• Are rehabilitation or other specialist services relevant?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Autosomal recessive myogenic arthrogryposis multiplex congenita. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.