Minicore myopathy- antenatal onset- with arthrogryposis
Overview
Minicore myopathy, antenatal onset, with arthrogryposis: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The antenatal form with arthrogryposis is distinguished by the presence of contractures at birth due to reduced fetal movement as well as various physical anomalies. The severity of symptoms is variable.
Symptoms
The list of signs and symptoms mentioned in various sources for Minicore myopathy, antenatal onset, with arthrogryposis includes the 16 symptoms listed below: * Reduced infant muscle tone * Delayed motor development * Muscle weakness * Muscle wasting * Long head * Prominent nose root * Oblique eye slits * High arched palate * Low set ears * Short neck * Khyphosis * Khyposcoliosis * Respiratory problems * Contractures * Reduced fetal movement * Short neck Note that Minicore myopathy, antenatal onset, with arthrogryposis symptoms usually refers to various symptoms known to a patient, but the phrase Minicore myopathy, antenatal onset, with arthrogryposis signs may refer to those signs only noticable by a doctor.
Causes
Other Possible Causes of these Symptoms * Delayed motor development * High arched palate * Long head * Low set ears * Muscle wasting * Muscle weakness * Respiratory problems * Short neck * Short neck
Diagnosis
These home medical tests may be relevant to Minicore myopathy, antenatal onset, with arthrogryposis: * Home Pregnancy Tests o Home Early Pregnancy Tests o Home Ovulation Tests o Home Fertility Tests o Home Rhesus/RH Blood Type Tests o Home Fetal Tests * Fertility-related Home Testing: o Home Ovulation Tests o Home Fertility Tests * Male Fertility Tests o Home Sperm Tests o Sperm Count Tests o Sperm Motility Tests