Congenital muscular dystrophy type 1B (Q103686): Difference between revisions
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Distrofia Muscular Congênita Tipo 1B é uma doença muscular congênita caracterizada por hipotonia muscular, fraqueza dos músculos proximais, hipertrofia de alguns músculos, rigidez da coluna e contraturas musculares, especialmente do tendão de Aquiles. Esta forma foi associada a um gene ainda não identificado no cromossomo 1 e é classificada como um subtipo das distroglicanopatias. | |||
| description / en | description / en | ||
Congenital Muscular Dystrophy Type 1B is a congenital muscular disorder characterised by muscle hypotonia, weakness of proximal muscles, hypertrophy of some muscles, rigidity of the spine, and muscle contractures especially of the Achilles tendon. This form has been linked to an as yet unidentified gene on chromosome 1 and is classified as a subtype of the dystroglycanopathies. | |||
Revision as of 09:26, 17 August 2026
Congenital Muscular Dystrophy Type 1B is a congenital muscular disorder characterised by muscle hypotonia, weakness of proximal muscles, hypertrophy of some muscles, rigidity of the spine, and muscle contractures especially of the Achilles tendon. This form has been linked to an as yet unidentified gene on chromosome 1 and is classified as a subtype of the dystroglycanopathies.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_222998722 |
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| English | Congenital muscular dystrophy type 1B |
Congenital Muscular Dystrophy Type 1B is a congenital muscular disorder characterised by muscle hypotonia, weakness of proximal muscles, hypertrophy of some muscles, rigidity of the spine, and muscle contractures especially of the Achilles tendon. This form has been linked to an as yet unidentified gene on chromosome 1 and is classified as a subtype of the dystroglycanopathies. |
