Cerebral Palsy or something more sinister...?

[vixen12345]

My son is 6 years old. He is a twin who was born at 33 weeks but with a good apgar score. He has a history of mild hypotonia and hypermobility, complex motor stereotypy and autistic traits (sensory issues and mild social communication disorder). He sat at 10 months, crawled at 14 months and walked at 22 months.

He is now doing very well, often exceeding expectations academically. A few months ago it was noted that he is now showing upper motor nueron signs in his right calf. I have also noticed that his speech sometimes appears slurred although only slightly.

I also have a two year old son who was born full term but had a cat1 c-section under general anaesthetic due to fetal distress. He had an apgar score of 9. He has also had mild hypotonia since birth and also has obvious complex motor stereotypy. He is being seen by a Specialist next week for a mild, intermittent hand tremor. He has no other symptoms and no autistic traits.

I have a third son, my eldest's twin brother. He has normal tone and no other issues.

Is it likely that the traits seen in two of my sons are benign familial conditions (alongside the eldest having PVL/CP) or are you aware of any genetic conditions which may encompass their symptoms?

Kind regards

[Dr. Kokil Mathur]

Hi!
Your question is pretty valid as two children have similar problems. Yes, there are many genetic conditions which run in families and can cause hypotonia. The various causes could be: congenital hypothyroidism, Charcot-Marie-Tooth disease (a demyelinating inherited condition), Down's syndrome, Prader-Willi syndrome (a rare genetic condition which affects growth and learning along with many other symptoms), Tay-Sachs disease (this is a fatal progressive disease affecting the nervous system and hence it is unlikely that your son's suffer from it), spinal muscular atrophy, myasthenia gravis(your sons' are unlikely to have this problem so early in life unless you suffer from it), and muscular dystrophy.

There are two other conditions which affect the connective tissue and hence cause hypotonia and hypermobility and these are: Marfan syndrome and Ehlers-Danlos syndrome.

So, it is important to get a genetic counseling and follow this aspect of cause behind your sons’ problems. Please discuss with your doctor. Good Luck and take care!