It is a rare disorder that affects adults.
Symptoms usually begin around age 35 and progress slowly.
Tibial muscular dystrophy causes gradual and progressive weakness of theanterior tibialis musclein the front of your lower leg.
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This leads to difficulty walking.
Foot drop is a common symptom of tibial muscular dystrophy.
Foot drop happens when a person has difficulty picking up their foot to walk due to weakness.
This can lead to tripping or falling.
Causes
Tibial muscular dystrophy is resulting from a genetic mutation in the gene TTN.
This gene is essential in the production of a protein called titin.
This defect causes muscle weakness.
There are a few different types of mutations of the TTN gene.
The FINmaj mutation causes tibial muscular dystrophy in people of Finnish descent.
Other less common mutations cause the disease in other populations.
It is not fully understood why the TTN gene mutations cause weakness only in the lower shin musculature.
This is done via a simple blood test.
Treatment
There is no known cure for tibial muscular dystrophy.
The goal of treatment is to maintain the muscular function of the ankle and leg.
Treatment may include:
Each person experiences a different progression of tibial muscular dystrophy.
Be sure you work closely with your healthcare provider to understand how your specific condition is progressing.
Prognosis
There is no known cure for tibial muscular dystrophy.
It is a progressive disease, but it can be well-managed with treatment.
For a small percentage of people, walking may become difficult or impossible.
Summary
Tibial muscular dystrophy is a progressive weakness in your tibialis anterior muscle.
It is sparked by a mutation in a specific gene that produces a protein necessary for proper muscular function.
Treatment options include physical therapy, strengthening exercises, orthotic devices, and surgery.
A Word From Verywell
Being diagnosed with a progressive disease can feel overwhelming and even frightening.
If you notice your condition worsening, talk with your healthcare provider.
Muscular Dystrophy Association.Tibial muscular dystrophy.
Udd B, Hackman P.Udd distal myopathy Tibial muscular dystrophy.
In: Adam MP, Everman DB, Mirzaa GM, et al., eds.GeneReviews.
Seattle (WA): University of Washington, Seattle; February 17, 2005.
National Organization for Rare Disorders.Distal myopathy.
