Gracie's Dr Appts

Last Friday we went to the clinic to meet with a Pediatric Orthopaedic Specialist, he's a Dr. at the Duluth clinic in Duluth. He checked over Gracie and said that I already knew everything about her, she is very flexible, and has weak muscle tone. There is a name for it, Ehlers Danlos but he cant diagnose her until she's at least two. He wants to see her back in one year to check her again, because this condition can cause flat feet. He then referred me to another Dr. that was up from Duluth that day, she is a Pysical Therapist Specialist, and told me another "diagnosis" its called Benign Congenital Hypotonia. She then referred us to a Pediatric Neurosurgeon. He also is from Duluth, but he has a long waiting list, so we are scheduled to see him early next year. I am going to check and see if he has an earlier appt in Duluth. Here are some facts on what the Dr.'s told me!

Benign Congenital Hypotonia
http://www.lightlink.com/vulcan/benign/

"Benign Congenital Hypotonia" and it's variants are medical labels which describe a condition of low muscle tone (usually the same thing as weak muscles). They are often used as if they were a specific disorder, but congenital hypotonia is actually just one symptom of many possible specific disorders for which a proper diagnosis may or may not have been made. The underlying disorder could be one of the congenital myopathies (such as Central Core Myopathy or Nemaline Myopathy), one of the metabolic disorders, Ehlers-Danlos Syndrome, Hypermobility Syndrome, Asperger's Syndrome, Downs Syndrome, a brain injury, or any of a great many rare (and possibly as-yet unknown) disorders.

What is Benign Congenital Hypotonia (BCH)?
That's a good question. The name literally means "a harmless case of poor muscle tone (strength, elasticity) since birth". It is a descriptive label for any congenital disease whose main symptoms are weak and floppy muscles. "Benign congenital hypotonia" is often inaccurately used as if it were a proper disease in its own right. If this is the only diagnosis given, it is not really a diagnosis, but a label for "we don't know".

BCH is normally discovered within the first few months of life. Or rather, symptoms are noticed within a few weeks to a year (sometimes with a provisional label of "failure to thrive"), and then months are spent ruling out everything else, and then perhaps a label of "Benign Congenital Hypotonia" (or some variation thereupon) is given, with no real answers. As my mother puts it, either I have Werdnig-Hoffman's disease or Benign Congenital Hypotonia, but since I'm still alive, I have BCH.

A diagnosis of BCH is sometimes considered a form of muscular dystrophy or cerebral palsy, depending on the symptoms and the doctor. If the cause of the hypotonia is thought to lie in the brain, then it might be classified as a cerebral palsy. If the cause seems to be in the muscles, it might be classified as a muscular dystrophy, even though most forms of BCH are not seriously distrophic. If the cause is thought to be in the nerves, it could be classified as either or neither. In any case, BCH is rarely an actual muscular dystrophy or cerebral palsy, and is often not classified as either one, or anything at all for that matter.

Symptoms
Typical symptoms include:
General weakness and flaccidity of the muscles (reduced strength and endurance). Depending on the underlying disease, different sets of muscles may be involved. In infants, hypotonia often results in:
poor suckling (and chewing)
inability to lift the head, rolling instead of crawling
weak cry
physical passivity
the child feels like a sack of jello when you pick it up - he or she wants to slide out of your hands
When the mouth muscles are involved, drooling and speech difficulties can occur in children.
Hypermobility of joints (how far back can you bend your fingers?). Hypotonic children often find it comfortable to sit in the "W" position and other painful or contortionist looking postures.
Poor reflexes
Delayed physical milestones ("Developmental Delay")
Constipation for those whose bowel muscles are affected
Many forms of BCH are also associated with skeletal abnormalities.

Since BCH is a diagnosis of exclusion, people who wind up at this web site often have a scattering of other symptoms which may or may not be related. These other symptoms have included breathing problems, hypersensitivity, learning problems, fine motor or balance problems (ataxia) and more.

Prognosis
The outcome in any particular case depends largely on the nature of the underlying disease. Typically the hypotonia does not get much worse, and sometimes improves. Usually, life expectancy is not seriously threatened, though this is unclear to me. Hypotonia does not intrinsically affect intelligence, though a number of underlying diseases may have adverse affects on one or more aspects of cognition.

Treatment and Therapy
There is currently no known treatment or cure for most (or perhaps all) causes of BCH. Physical, occupational, and speech therapies are often recommended and used, with very good results. Ankle/foot orthoses are sometimes used for weak ankle muscles. Hypotonic, passive babies may need extra stimulation. Toddlers and children with speech difficulties may benefit greatly by using sign language within the family until speech has become intelligible by the family.

Ehlers Danlos
Ehlers-Danlos syndrome (EDS) is a group of uncommon, inherited connective tissue disorders. There are six major types of EDS. These types are categorized based on signs and symptoms. All types affect the joints, and many also affect the skin. If your doctor suspects EDS, he or she may refer you to a geneticist to determine the specific type. There's no cure for EDS. Treatment is usually directed at managing the signs and symptoms.

Hypermobility (formerly called type III) Loose, unstable joints
Chronic joint pain
Mitral valve prolapse, which affects blood flow between the chambers of the heart
This is the most common form of EDS. It may affect as many as one in 10,000 to 15,000 people.