Bethlem myopathy 1C(BTHLM1C)

MedGen UID:: 1854240
•Concept ID:: C5935581
•: Disease or Syndrome

Synonym:	BTHLM1C

Gene (location): Gene(s) directly associated with this condition or phenotype.	COL6A3 (2q37.3)

Monarch Initiative:	MONDO:0958234
OMIM®:	620726

Definition

Bethlem myopathy-1 (BTHLM1) is a congenital muscular dystrophy characterized by distal joint laxity and a combination of distal and proximal joint contractures. Weakness usually begins in mid-childhood or adolescence, but progression is slow and ambulation is retained into adulthood (summary by Butterfield et al., 2013). For general phenotypic information and a discussion of genetic heterogeneity of Bethlem myopathy, see BTHLM1A (158810). [from OMIM]

Clinical features

From HPO

Motor delay

MedGen UID:: 381392
•Concept ID:: C1854301
•: Finding

A type of Developmental delay characterized by a delay in acquiring motor skills.

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Joint contracture

MedGen UID:: 3228
•Concept ID:: C0009918
•: Anatomical Abnormality

A limitation in the passive range of motion of a joint resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part.

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Kyphosis