Most causes of motor weakness are genetically based, and parents who have one affected child have an increased risk to have another affected child. Diagnosis allows families to access family planning, if they wish. Options include carrier testing, prenatal testing, pre-implantation diagnosis, and the use of donor gametes. A referral for genetic counseling is recommended if a genetically-transmitted disease is suspected or diagnosed.
There can be significant family stress with the delay of an accurate diagnosis. Families often see several clinicians before receiving a referral to a specialist familiar with neuromuscular disorders and may experience unnecessary testing.
Genetic/genomic tests (such as karyotype, microarray, or sequencing) may diagnose or identify risk for a neuromuscular disorder before there are obvious symptoms. Urgent telephone consultation with a geneticist or neurologist will inform an appropriate referral. MORE CLINICAL PEARLS
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