Spinal Muscular Atrophy

Hi,

I've been doing some research as a patient has presented at my private clinic with Spinal Muscular atrophy. They are 30 years old, female, severe scoliosis and had spinal surgery at age 9 but have outgrown the rods so are having to currently consider further surgery.

They are wanting to consider manual therapy for the following reasons:

• To maintain the quality of the viable skeletal muscle
• Currently the right arm shoulder is the main active limb and want to maintain this. Experiencing right post shoulder P more frequently
• Left elbow when in wheelchair is used to support the thorax (left sided scolosis) and concern about longer term effects of this posture
• Both forearms have virtually no supination at present (always the case through reluctance of this particular rehab as a child)
• Circulatory issues in the lower limbs in general but noticed for approx 6/12

Concerns

• Patient has had 'no' manual/physical therapy/rehab since a child, including any chest physiotherapy although they are on a ventilator and experience the typical problems with respiratory weakness and infections throughout the year.
• Patient has very little triceps strength, which in the wheel chair is not a problem but when supine presents major issues.
• They are getting a new customised wheelchair in the coming months but have been experiencing P in the R hip (previously dislocated) with associated numbness in the lateral R foot.

So.....has anyone had any experience of working with patients with SMA or similar conditions? The patient is 'extremely' keen to at least maintain current mobility and is considering the potential for future pregnancy (they have discussed with physician so understand implications). They are also keen for any improvements in strength/mobility/respiratory function.

Have been surprised at lack of information about this so any suggestions would be gratefully received!

Many thanks

Vicki :rolleyes:

Hi vicki

I haven't had much experience so probably not much help. I have only seen a few adults with tye 2 SMA and I have no experience with children. In those cases I just mainly took a symtomatic problem solving approach with ergonomic adaptions and gave them PRT and aerobic training where possible to improve what motor units were available. I don't know these patient experience long term deterioration as in post-polio problems - the people I saw were in their 20s and 30s

estherderu is a regular poster on this site and she may be able to help you. She is very knowledgeable in paediatrics and childhood onset problems. You could send her a PM.

You are right about how little stuff there is out there. I did a search of a few databases - CINAHL did have a number of physio related papers - more than the other databases, so if you have access to CINAHL that might be productive. Also have you had a look at:

SMA Foundation | Spinal Muscular Atrophy

this is the US organisation. They seem to have a number of resources. It might be worth contacting them to see if there is some sort of physio interest group.

Best of luck with getting more info and support.