• subtypes
  • There are several other less common forms such as arrhythmogenic right ventricular dysplasia, noncompaction, and others where it is controversial whether they are subtypes of the three principle forms or should be considered as completely different diseases. (rarediseases.org)
  • symptoms
  • Laminopathies and other nuclear envelopathies have a large variety of clinical symptoms including skeletal and/or cardiac muscular dystrophy, lipodystrophy and diabetes, dysplasia, dermo- or neuropathy, leukodystrophy, and progeria (premature aging). (wikipedia.org)
  • SMA type 0 should not be confused with SMARD1 which may have very similar symptoms and course but has a different genetic cause than SMA. (wikipedia.org)
  • Oculopharyngeal muscular dystrophy (OPMD) is a rare form of muscular dystrophy with symptoms generally starting when an individual is 40 to 50 years old. (wikipedia.org)
  • medical citation needed] In terms of the signs/symptoms of Fukuyama congenital muscular dystrophy it is characterized by a decrease in skeletal muscle tone as well as an impairment in brain and eye development.Initial symptoms of FCMD present in early infancy as decreased ability to feed. (wikipedia.org)
  • clinical
  • Further studies are needed to identify and characterize more sensitive indicators of cardiac dysfunction in muscular dystrophy subjects to better stratify subjects for entry into clinical protocols. (clinicaltrials.gov)
  • cardiac
  • Further characteristics include: Seizures Delay in developmental Cardiac issues Swallowing difficulty Neurological problems Fukuyama congenital muscular dystrophy also affects the nervous system and various associated parts. (wikipedia.org)
  • protein
  • Several different proteins can be affected, and the specific protein that is absent or defective identifies the specific type of muscular dystrophy. (wikipedia.org)
  • Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. (genecards.org)
  • This binding forms the characteristic loop structure of eukaryotic protein synthesis. (wikipedia.org)
  • heterozygous
  • Sickle-cell anemia is also considered a recessive condition, but heterozygous carriers have increased resistance to malaria in early childhood, which could be described as a related dominant condition. (wikipedia.org)
  • Lipodystrophy
  • Familial partial lipodystrophy (FPL), also known as Köbberling-Dunnigan syndrome, is a rare genetic metabolic condition characterized by the loss of subcutaneous fat. (wikipedia.org)
  • progressive
  • Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy characterized by multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. (biomedsearch.com)
  • Spinal muscular atrophy manifests in various degrees of severity, which all have in common progressive muscle wasting and mobility impairment. (wikipedia.org)
  • muscles
  • The result of the defect is that the muscles cannot properly form certain proteins needed for normal muscle function. (wikipedia.org)
  • muscle
  • a rare form of CMD causing permanent shortening of the toe joints and lack of muscle tone which can delay walking due to the individual being weak. (wikipedia.org)
  • Approximately 80% of males with myotubular myopathy diagnosed by muscle biopsy have mutations in MTM1, and about 7% of these mutations are genetic deletions. (wikipedia.org)
  • Cases with a centronuclear (nucleus in the center) appearance on muscle biopsy but a normal genetic test for MTM1 would be referred to as centronuclear myopathy until such time as a specific genetic site is identified to give a more detailed sub-classification. (wikipedia.org)
  • The myotonia (delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as quinine. (wikipedia.org)