Concluded Case

A 2 yrs old male pt having neck muscles weakness, Delayed developmental milestones, his cognition is good. since neck control not achieved like wise sitting is not achieved. Here I am attaching his photos and reports. What will be the diagnosis as well as management?

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Concluded answer
Congenital muscular dystrophy. Muscle biopsy, MRI. cpk is high that's why think of muscular dystrophy.
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Hello it's a case of dms so he is delayed in all activity. Firstly start with all four limb passive rom exercises, then joint compression exercise, for neck holding put one pillow under the chest of baby in prone position hands and hip should be restricted or hold them so baby should not move and facilitate neck and uPper back muscle by finger stimulation. Firstly baby will cry do not worry it will take 3 to 4 days for adapting new things. If proper treatment given baby can walk in next 6 months. And definitely he will achieve all milestone please be patience it will take time.
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Physio ball exercise also helps a lot for building muscle tone. These kids are most of time hypotonic. Do not hasitate to ask further questions. Regards Mayank khatri Physical panacea Bikaner
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Congenital muscular dystrophy. Muscle biopsy, MRI. cpk is high that's why think of muscular dystrophy.
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Cpk is high consultant child neurologist for proper diagnosis & Rx
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Congenital myopathies...Nemaline/central core/myotubular myopathy.
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Congenital muscular dystrophy
Early presentation of DMD.
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Child is 2 year old. Advise parents to make him wear a soft towel roll around neck, make sure two finger gap is present between towel and neck. This will help in keeping the head in alignment and give support. Work with child sitting 90-90 on a firm surface such as bench or bed, weight bearing on forearm and reaching out laterally and then slightly forward with other arm. Give support as needed. Work for hand function with arm supported, teach him to eat by himself holding a chapati roll etc.. Can he eat safely ? Check.. Does he make sound and speak.. he is 2 yrs so shud be doing so , atleast few words... How does he communicate..? Is he loud enough ? Work for chest expansion , breathing exercises using blowing through straw ... Don't try forceful blowing such as whistles as it will exert him to great extent. Check for Vit D levels and Ca... If all levels are normal, he can be made to stand fully supported on a standing board , entirely strapped so that hips can get some weight bearing however be very cautious as he has dystrophy, weak muscles, he will fatigue and you should not cause any fractures during treatment and wright bearing.. hence support as much as is necessary.
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Post MRI films. Needs Screening of MRIcervical spine also in view of the normal cogitive function. All investigations posted- normal.
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