myopathy, myofibrillar, 13, with rimmed vacuoles

A rare genetic neuromuscular disease caused by a mutation in HSPB8 gene, characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles.

Also known as: HSPB8-associated autosomal dominant rimmed vacuolar myopathy, HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome, MFM13, autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome, limb-girdle rimmed vacuolar myopathy, rimmed vacuoles myopathy

Category: General

What is myopathy, myofibrillar, 13, with rimmed vacuoles?

myopathy, myofibrillar, 13, with rimmed vacuoles 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 myopathy, myofibrillar, 13, with rimmed vacuoles, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with myopathy, myofibrillar, 13, with rimmed vacuoles

AstheniaDistal lower limb muscle weaknessFoot dorsiflexor weaknessHand muscle weaknessHearing impairmentHypertensionLimb-girdle muscle weaknessLower limb muscle weaknessNeck flexor weaknessProximal lower limb muscle weaknessProximal upper limb muscle weaknessScapular winging

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.