Results 1 - 10 of 10 for "Charcot-Marie-Tooth" "disease," "X-linked" "recessive," type 5
  1. ... Marie-Tooth disease, type IF Genetic Testing Registry: Charcot-Marie-Tooth disease, X-linked recessive, type 5 Genetic Testing Registry: Charcot-Marie-Tooth disease dominant ...
  2. Rare Diseases and Related Terms From the National Institutes of Health (Office of Rare Diseases)  
    ... disorder type 3 - See Cerebelloparenchymal disorder 3 * Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia - See Autosomal recessive axonal neuropathy ...
  3. Metabolic Diseases of Muscle (Muscular Dystrophy Association) - PDF  
    ... closely. Phosphorylase deficiency Also called: Myophosphorylase deficiency, McArdle disease, glycogenosis type 5 Onset: Childhood to adulthood Inheritance: Autosomal recessive Symptoms: Causes exercise intolerance, cramps, muscle pain and ...
  4. Genetics and Neuromuscular Diseases (Muscular Dystrophy Association) - PDF  
    ... linked disorders, females routinely show symptoms of the disease, although they’re rarely as serious (or lethal) as those in the males. Some experts prefer the term X-linked recessive for the type of X-linked disorder in which females rarely ...
  5. Charcot-Marie-Tooth and Related Diseases (Muscular Dystrophy Association) - PDF  
    ... defective gene from a parent will have the disease, as will the parent. When CMT is passed on in an autosomal dominant pattern, it can be easy to recognize in the family tree. In contrast, X-linked or autosomal recessive types of CMT might seem to occur “out of ...
  6. Causes of Charcot-Marie-Tooth Disease (CMT) (Muscular Dystrophy Association)  
    ... defective gene from a parent will have the disease, as will the parent. When CMT is passed on in an autosomal dominant pattern, it can be easy to recognize in the family tree. In contrast, X-linked or autosomal recessive types of CMT might seem to occur “out of ...
  7. Spinal Muscular Atrophy (SMA) (Muscular Dystrophy Association) - PDF  
    ... doesn’t “run in the family.” The chromosome 5 type of SMA (the most common type) follows an inheritance pattern known as autosomal recessive , which often takes families by surprise. Diseases that are recessive require two gene flaws — usually ...
  8. Rare Diseases Clinical Research Network (Rare Diseases Clinical Research Network)  
    ... ataxia GAD ataxia Gluten ataxia Mitochondrial ataxia Mitochondrial ... ataxia 5(SCA5) Spinocerebellar ataxia 6(SCA6) Spinocerebellar ataxia 7( ...
  9. ... heels very early in the course of the disease. Finally, and very importantly, ... very rarely, in a recessive fashion. Although dominant, recessive and X-linked EDMD ...
  10. Myopathies (Muscular Dystrophy Association) - PDF  
    ... the family has it. This is because genetic diseases like inheritable myopathies can be inherited in a variety of ways: X-linked, autosomal dominant and autosomal recessive. Or, a new spontaneous mutation, may occur for ...
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