Benign Congenital Hypotonia
What is benign congenital hypotonia?
Benign congenital hypotonia (BCH) is a nonprogressive neuromuscular disorder that is present at birth. Congenital hypotonia is a medical term used to refer to poor muscle tone that’s present at birth (congenital). It’s not a disease but a sign of an underlying problem. Causes include central nervous system and muscle disorders. Sometimes, the cause can’t be determined. Doctors call this benign congenital hypotonia.
Signs and symptoms of hypotonia include:
- Floppy appearance
- Significant weakness
- Little or no head control
Hypotonia doesn’t affect intelligence. But it may delay development of large-muscle movement and coordination (gross motor skills). In benign congenital hypotonia, results of tests on the child’s muscles and brain are normal. On physical exam, tendon reflexes may be decreased. Some children have recurrent joint dislocations, which can be a problem in certain sports such as gymnastics.
In most cases, poor muscle tone improves with age. But mild weakness may persist into adulthood.
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 jelly 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.
Additional disabilities may be found in children with BCH. Due to a limited ability to explore one’s surroundings, cognitive development may be delayed. Children identified as having BCH may fill the void with self stimulating activities such as banging motions.
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. Hypotonia does not intrinsically affect intelligence, though a number of underlying diseases may have adverse affects on one or more aspects of cognition.
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. Physical therapy is used to improve fine motor control and overall body strength, whilst Occupation and speech-language therapy to help with breathing, speech and swallowing difficulties. 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.
Family coping and intervention
Parents of a child with BCH cope with many stresses. Their lives change immediately with the birth of the child. The child does not develop at the same rate as his peers. Parents may not recognize or may deny that there is a problem with their child. Denial is common among extended family members which eliminates a source of support to parents. Parents need education and support as they readjust expectations and accept their child’s challenges. Families face many decisions regarding diagnosis and treatment of their child. The family may face financial hardship and social isolation as well (Trachtenberg & Batshaw, 1997).
Concern regarding a child’s development is the basis of early intervention services. However, early intervention has a broader focus. Successful programs emphasize a family centered, developmental approach providing education and support (Bailey, 1991a). Primary care providers are the first step in the early intervention process. Thorough assessments of at risk children are essential (Allen, 1993). Referrals to developmental specialists are initiated by the primary care physician. Children with hypotonia and developmental delay are then referred to individualized programs including early education, speech, occupational and physical therapy.