Congenital birth Symptoms include general muscle weakness and possible joint deformities; disease progresses slowly; shortened life span.
[hopkinsmedicine.org]
The boy had a severe delay in psychomotor development, no verbal contact, generalized hypotonia, fatiguable muscle weakness, myopathic face with bilateral ptosis, hyperextensible
[neurology.org]
KEY FEATURE • Ocular or generalized muscle weakness.
[medtextfree.wordpress.com]