muscular dystrophy-dystroglycanopathy type B5

A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.

Also known as: MDC1C, MDDGB5, congenital muscular dystrophy-FKRP related, muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5, muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5

Category: General

What is muscular dystrophy-dystroglycanopathy type B5?

muscular dystrophy-dystroglycanopathy type B5 is a recognized medical condition. This page explains what it is, symptoms that may accompany it, and the lab tests healthcare providers sometimes use to investigate it. It is educational information only and is not a diagnosis.

If you think you may have muscular dystrophy-dystroglycanopathy type B5, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with muscular dystrophy-dystroglycanopathy type B5

DysphagiaFacial palsyGeneralized muscle weaknessMuscle weaknessMyalgiaProximal muscle weaknessShoulder girdle muscle weaknessWeakness of facial musculature

When to seek medical care

Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.