The Task Force asked parents of children with the Duchenne and Becker (D/BMD), congenital muscular dystrophies (CMD) and spinal muscular atrophy (SMA) to describe the pre-diagnostic experiences of how they presented their earliest concerns to their healthcare providers. Goal: Help providers understand the words and phrases that parents most often reported use when describing their children’s weakness.

The themes and specific words most often described by parents as their first concerns include:

Comparison to sibs/peers

• “He does not keep up with other kids his age”

Coordination problems

• “She falls down a lot even when there is nothing to trip over”
• “She seems uncoordinated”

Head control

• “She struggles to lift her head”
• “He hates tummy time”

Hypotonia

• “He’s floppy”
• “Feels like a rag doll”

Intuition

• “Something just isn’t quite right

Jumping - inability to do so

Lack of progression in motor skills

• “She’s not where she should be”

Rise from floor

• “He’s climbing up his body”
• “He rises from the floor using a specific pattern”

Stairs

• “She has a hard time going up stairs”
• “He’s slow up the stairs” 
• “He cannot alternate feet”

Standing

• “She won’t bear weight on her legs”
• “Her legs give out”

Walking

• “She’s not walking yet at all”
• “awkward” or “funny” walk
• “He always walks on his toes”

Weakness

• “His legs are weak”
• “She can’t reach out with her arms”
• “She’s weak all over”

Note: Parent statements of concern may be vague and such statements should prompt specific follow-up questions.