Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15(MDDGB15)

MedGen UID:: 1755743
•Concept ID:: C5436552
•: Disease or Syndrome

Synonym:	MUSCULAR DYSTROPHY, CONGENITAL, DPM3-RELATED

Gene (location): Gene(s) directly associated with this condition or phenotype.	DPM3 (1q22)

Monarch Initiative:	MONDO:0033556
OMIM®:	618992

Definition

Congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development (MDDGB15) is characterized by elevated serum creatine kinase, developmental delay, epilepsy, impaired intellectual development, and brain abnormalities (Fu et al., 2019). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155). [from OMIM]

Clinical features

From HPO

Delayed ability to walk

MedGen UID:: 66034
•Concept ID:: C0241726
•: Finding

A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.

See: Feature record | Search on this feature

Motor delay

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

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

See: Feature record | Search on this feature

Abnormal periventricular white matter morphology

MedGen UID:: 435926
•Concept ID:: C2673431
•: Finding

A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.

See: Feature record | Search on this feature

Generalized non-motor (absence) seizure

MedGen UID:: 1385688
•Concept ID:: C4316903
•: Disease or Syndrome

A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.

See: Feature record | Search on this feature

Delayed ability to stand

MedGen UID:: 1370611
•Concept ID:: C4476709
•: Finding

A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months.

See: Feature record | Search on this feature

Myopathy

MedGen UID:: 10135
•Concept ID:: C0026848
•: Disease or Syndrome

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.

See: Feature record | Search on this feature

Centrally nucleated skeletal muscle fibers

MedGen UID:: 330782
•Concept ID:: C1842170
•: Finding

An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).

See: Feature record | Search on this feature

Increased variability in muscle fiber diameter