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Congenital myopathies (5 gene have been linked to congenital myopathies…
Congenital myopathies
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nemaline myopathy
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types of NM
mild
The mildest form of NM is present during childhoodand generally these patients have normal motor mile-stones. This form can be progressive, and may beindistinguishable from the typical form at later stages
typical
This is the most common form and is generallyautosomal recessive. The onset is from birth to infancyand patients generally have respiratory independencebut are in some danger of nocturnal hypoxia orhypercarbia. Patients do have respiratory insufficiencythroughout their lives and this is often the cause ofdeath. Many patients can lead an active life, but somewill need a wheelchair
severe
The onset is from birth and infants are dependent on aventilator from birth. There are often no spontaneous movements and this form is often lethal in the first year.
intermediate
This form is also present from birth to infancy andpatients have respiratory independence by 1 year, butthis form is defined by progressive deterioration andloss of ambulation by 11 years
adult-onset
Onset of this form is in the third to sixth decade and it is progressive. Some inflammatory changes are seen upon muscle biopsy and it is speculated that this form may be distinctly different from the other forms interms of pathophysiology.
Amish
This form is autosomal recessive, with neonatal onset,and is lethal during early childhood, usually due to respiratory insufficiency
Other forms
Cases that do not fit these categories are listed as‘other’ but it is not clear whether these are distinct variants of NM or other diseases with associated rods
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