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Results 1 - 10 of 18 for Atrophic muscular disease
  1. Spinal and bulbar muscular atrophy 
    ... DJ, Spriggs EL. Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women. Neurology. 2002 Sep 10; ...
    https://medlineplus.gov/.../spinal-and-bulbar-muscular-atrophy - Genetics
  2. Spinal muscular atrophy 
    ... overlap between the types. Other forms of spinal muscular atrophy and related motor neuron diseases, such as spinal muscular atrophy with progressive myoclonic ...
    https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy - Genetics
  3. Farber lipogranulomatosis 
    ... pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat. 2020 Sep; ...
    https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis - Genetics
  4. Charcot-Marie-Tooth disease 
    ... CMT Hereditary motor and sensory neuropathy HMSN Peroneal muscular atrophy PMA Genetic Testing Registry: Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease/Hereditary motor and sensory ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  5. Distal hereditary motor neuropathy, type V 
    ... Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet. 2003 May; ...
    https://medlineplus.gov/...distal-hereditary-motor-neuropathy-type-v - Genetics
  6. Spinal muscular atrophy with respiratory distress type 1 
    ... A, Schuelke M. Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease. J Mol Med (Berl). 2009 Jan;87(1): ...
    https://medlineplus.gov/...-atrophy-with-respiratory-distress-type-1 - Genetics
  7. Spinal muscular atrophy with progressive myoclonic epilepsy 
    ... P, Boccella P, Sarappa C, Striano S. Spinal muscular atrophy and progressive ... ceramidase deficiency: Farber disease and SMA-PME. Orphanet J Rare Dis. 2018 ...
    https://medlineplus.gov/...rophy-with-progressive-myoclonic-epilepsy - Genetics
  8. Facioscapulohumeral muscular dystrophy 
    ... a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the muscles ... these cells, leading to progressive muscle weakness and atrophy.The DUX4 gene is located next to a ...
    https://medlineplus.gov/.../facioscapulohumeral-muscular-dystrophy - Genetics
  9. Distal hereditary motor neuropathy, type II 
    ... individuals experience a gradual loss of muscle tissue (atrophy) in the lower legs, which can lead to ... paralyzed. The thigh muscles may also undergo muscle atrophy, although this generally occurs later and is less ...
    https://medlineplus.gov/...istal-hereditary-motor-neuropathy-type-ii - Genetics
  10. Duchenne and Becker muscular dystrophy 
    ... conditions characterized by progressive muscle weakness and wasting (atrophy). The Duchenne and Becker types of muscular dystrophy ... typically milder than the severe muscle weakness and atrophy seen in affected males. Females who carry a ...
    https://medlineplus.gov/.../duchenne-and-becker-muscular-dystrophy - Genetics
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