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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Myofibrillar myopathy


Other Names for this Disease

  • Alpha Beta crystallinopathy (type)
  • Desmin related myopathy (former name)
  • Desmin storage myopathy (former name)
  • Desminopathy (type)
  • Filaminopathy (type)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of myofibrillar myopathy?

Myofibrillar myopathy (MFM) primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected. The signs and symptoms of MFM vary widely among affected individuals, typically depending on the condition's genetic cause. Most people with this disorder begin to develop muscle weakness (myopathy) in mid-adulthood. However, features of this condition can appear anytime between infancy and late adulthood. Muscle weakness most often begins in the hands and feet (distal muscles), but some people first experience weakness in the muscles near the center of the body (proximal muscles). Other affected individuals develop muscle weakness throughout their body. Facial muscle weakness can cause swallowing and speech difficulties. Muscle weakness worsens over time. Other signs and symptoms of MFM can include a weakened heart muscle (cardiomyopathy), muscle pain (myalgia), loss of sensation and weakness in the limbs (peripheral neuropathy), and respiratory failure. Individuals with this condition may have skeletal problems including joint stiffness (contractures) and abnormal side-to-side curvature of the spine (scoliosis). Rarely, people with this condition develop clouding of the front surface of the eyes (cataracts).[1]
Last updated: 3/18/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Myofibrillar myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Arrhythmia -
Autosomal dominant inheritance -
Autosomal recessive inheritance -
Bulbar palsy -
Constipation -
Diarrhea -
Dilated cardiomyopathy -
Distal muscle weakness -
EMG: myopathic abnormalities -
Facial palsy -
Hypertrophic cardiomyopathy -
Hyporeflexia of lower limbs -
Late-onset proximal muscle weakness -
Neck muscle weakness -
Phenotypic variability -
Respiratory insufficiency due to muscle weakness -
Restrictive heart failure -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Myofibrillar myopathy. Genetics Home Reference. January 2011; http://ghr.nlm.nih.gov/condition/myofibrillar-myopathy. Accessed 3/17/2011.


Other Names for this Disease
  • Alpha Beta crystallinopathy (type)
  • Desmin related myopathy (former name)
  • Desmin storage myopathy (former name)
  • Desminopathy (type)
  • Filaminopathy (type)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.