Arthrogryposis-like hand anomaly and sensorineural deafness

December 31, 2014

Synonyms

Overview

A rare disorder characterized by hand contractures and deafness.

Symptoms

Short stature
Long thin fingers
Hearing loss
Restricted hand mobility
Wasted build
Poorly muscled build
Arachnodactyly
Hearing impairment
Limitation of joint mobility

Causes

Although several mechanisms have been suggested. This includes hyperthermia of the fetus, prenatal virus, fetal vascular compromise, septum of the uterus, decreased amniotic fluid, muscle and connective tissue developmental abnormalities. In general, the causes can be classified into extrinsic and intrinsic factors.

Diagnosis

To date, no prenatal diagnostic tools are available to test for the condition. Diagnosis is only used to rule out other causes. This is done by undertaking muscle biopsies, blood tests and general clinical findings rule out other disorders and provides evidence for AMC

Prognosis

Individuals with AMC are aided by vigorous therapy and in some cases surgical intervention. This varies to some degree, depending on the severity of mobility reduction. AMC is not a progressive disorder. Typically these individuals have normal cognition and speech and therefore the potential for productive, rewarding, and independent lives.

Treatment

While there is no reversal of this condition, individual quality of life can be greatly improved. As each person will respond differently, and will have different needs, a combination of therapies is beneficial.