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.
Signs of proximal muscle weakness include: abdominal breathing or accessory muscle use; a feeling of "slipping through hands" when held suspended by examiner under armpits; inability to voluntarily flex neck when supine or head lag when pulled to sit; difficulty rising from floor (including Gowers maneuver, full or modified) MORE CLINICAL PEARLS
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