Distal muscular dystrophy

Distal muscular dystrophy is a group of disorders characterized by onset in the hands or feet. Many types involve dysferlin, but it has been suggested that not all cases do.[1]

Distal muscular dystrophy
Other namesDistal myopathy
DYSF
SpecialtyNeurology 

Types
Name OMIM Locus
Miyoshi myopathy (in Japan)[2][3] 254130 DYSF at 2p13.3-p13.1(DYSF is also associated with limb-girdle muscular dystrophy type 2B.[4])
Distal myopathy with anterior tibial onset[5] 606768 DYSF at 2p13.3-p13.1
Welander distal myopathy 604454 TIA1[6] at 2p13[7]

Cause

The cause of this dystrophy is very hard to determine because it can be a mutation in any of at least eight genes and not all are known yet. These mutations can be inherited from one parent, autosomal dominant, or from both parents, autosomal recessive. Along with being able to inherit the mutated gene, distal muscular dystrophy has slow progress therefore the patient may not know that they have it until they are in their late 40s or 50s. There are eight known types of distal muscular dystrophy. They are Welander’s distal myopathy, Finnish (tibial) distal myopathy, Miyoshi distal myopathy, Nonaka distal myopathy, Gowers–Laing distal myopathy, Hereditary inclusion-body myositis type 1, Distal myopathy with vocal cord and pharyngeal weakness, and ZASP-related myopathy. All of these affect different regions of the extremities and can show up as early as 5 years of age to as late as 50 years old.

Diagnosis

In terms of diagnosis, Vocal cord and pharyngeal distal myopathy should be assessed via serum CK levels, as well as muscle biopsy of the individual suspected of being afflicted with this condition[8]

Management

References
  1. Murakami N, Sakuta R, Takahashi E, et al. (December 2005). "Early onset distal muscular dystrophy with normal dysferlin expression". Brain Dev. 27 (8): 589–91. doi:10.1016/j.braindev.2005.02.002. PMID 16310593.
  2. Soares CN, de Freitas MR, Nascimento OJ, da Silva LF, de Freitas AR, Werneck LC (December 2003). "Myopathy of distal lower limbs: the clinical variant of Miyoshi". Arq Neuropsiquiatr. 61 (4): 946–9. doi:10.1590/S0004-282X2003000600011. PMID 14762596.
  3. Aoki, Masashi (1 January 1993). "Dysferlinopathy". GeneReviews. Retrieved 10 May 2016.
  4. Illa I (March 2000). "Distal myopathies". J. Neurol. 247 (3): 169–74. doi:10.1007/s004150050557. PMID 10787109. Archived from the original on 2013-02-13.
  5. "OMIM Entry - # 606768 - MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT". www.omim.org. Retrieved 31 May 2017.
  6. Hackman P, Sarparanta J, Lehtinen S, Vihola A, Evilä A, Jonson PH, Luque H, Kere J, Screen M, Chinnery PF, Åhlberg G, Edsröm L & Udd B (January 2013). "Welander Distal Myopathy Is Caused by a Mutation in the RNA-Binding Protein TIA1". Annals of Neurology. 73 (4): 500–509. doi:10.1002/ana.23831. PMID 23401021.
  7. von Tell D, Bruder CE, Anderson LV, Anvret M, Ahlberg G (August 2003). "Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus". Neurogenetics. 4 (4): 173–7. doi:10.1007/s10048-003-0154-z. PMID 12836053.
  8. Udd, Bjarne (1 January 2011). Distal muscular dystrophies. Handbook of Clinical Neurology. 101. pp. 239–262. doi:10.1016/B978-0-08-045031-5.00016-5. ISBN 9780080450315. ISSN 0072-9752. PMID 21496636. – via ScienceDirect (Subscription may be required or content may be available in libraries.)

Further reading
  • Udd, Bjarne (February 2007). "Molecular biology of distal muscular dystrophies—Sarcomeric proteins on top". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1772 (2): 145–158. doi:10.1016/j.bbadis.2006.08.005. PMID 17029922.
Classification
External resources


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