FLNC

Autosomal dominant inheritance

Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.

Member stories affected by FLNC

I received genetic confirmation for MFM5 (FLNC) in February of 2015. As commonly experienced with most people with Myofibrillar Myopathy, I experienced symptoms for many years prior to my diagnosis.
As I child, although very active, I was not coordinated and not a fast runner. I had difficulty learning to ride a two-wheel bike and could never master a cartwheel. I dreaded the gymnastics unit of physical education classes. However, I was a very active person until my early 40s, when I started having difficulty climbing stairs and slight balance issues. I also experienced great stiffness in my hip. At that time, my primary care doctor was stumped by my symptoms thinking it was arthritis. I thought I was just out of shape.
The progression of muscle weakness and lack of balance was very slow. In my mid-50’s a good friend, who is also a physician, highly encouraged me to see a new PCP whom he recommended. At first I was tested for MS and then went through a battery of other neurologic tests when this was ruled out. After a complete battery of tests, the neurologist I was seeing at that time was stumped. He could only say that I probably had some kind of myopathy or Muscular Dystrophy, but he did not know which kind. I was very lucky, however, because the muscle sample from my biopsy was sent to the University of Minnesota and the neurologist who reviewed the results contacted me and offered to see me for a second opinion. After two rounds of genetic testing plus a repeat of other tests, MFM5 was confirmed. No one else in my family has this disease.
I am currently 62 and the progression continues to be quite slow. I retired from teaching after I received a confirmed diagnosis because I became too fatigued while working. I am still able to walk but use a walker and I still drive. I do use a mobility scooter for long distances and recently received a wheelchair and am in the process of having our van converted. I am on medication for high blood pressure and a low dose statin. I also take a vitamin D supplement and a multivitamin.


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Myofibrillar Myopathy

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