Talk:Congenital distal spinal muscular atrophy
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Article assessment by fellow class memberedit
Really great article! Included pictures were a fantastic addition, just make sure to hit the minimum bytes for the final article. ___________ Total: 17 out of 20 Reviewed by KelseyGratton (talk) 21:16, 20 November 2013 (UTC)
Make sure to exceed the 15,000 byte limit.
Hasn't responded to comment from three days ago/
I feel there should be added information under several headings, including the subheadings under the 'Related Disorders Involving the TRPV4 Gene' section.
I feel once there is a bit more information and exceeds the byte limit, you will be good to go!! Total: 16 out of 20 Allison gainer (talk) 14:50, 25 November 2013 (UTC)
It was a great article. The info you added looks awesome! Total: 19 out of 20 Ruthfogg (talk) 14:50, 25 November 2013 (UTC) |
Moved
editMoved from article, per WP:MEDMOS#Sections, why are other conditions developed here rather than in their own articles? SandyGeorgia (Talk) 19:12, 16 December 2013 (UTC)
Related disorders involving the TRPV4 gene
editMutations on the TRPV4 gene can cause different, but very similar spinal muscular atrophies (SMA) of the peripheral nervous system. Other skeletal dysplasias can also be the result of a mutation on the TRPV4 gene.[1] The mutations can occur at different alleles that have been linked to scapuloperoneal spinal muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy 2C (HMSN2C), which are forms of SMAs. The related skeletal dysplasias include brachyolmia, spondylometaphyseal dysplasia Kozlowski type, and nonlethal metatropic dysplasia.[2] All of these disorders exhibit overlapping symptoms, as well as unique ones that set them apart from the others.
Scapuloperoneal spinal muscular atrophy (SPSMA)
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Scapuloperoneal weakness and atrophy, vocal cord paralysis, laryngeal palsy, along with complete absence of some muscle groups are all typical features of SPSMA. Males are more affected than females, and later generations have increased disease expression, suggesting genetic anticipation.[3]
Hereditary motor and sensory neuropathy 2C (HMSN2C)
editHereditary motor and sensory neuropathy 2C, commonly known as Charcot-Marie-Tooth disease is also a result of a mutation of the TRPV4 gene. Signs and symptoms include distal muscle weakness and wasting in the limbs, distal sensory loss, vocal cord paralysis, and weakness of the diaphragm and intercostal muscles. Onset varies greatly from childhood to 30 years of age, with prognosis mainly due to respiratory complications.[4]
Brachyolmia
editFeatures of brachyolmia include short trunk, scoliosis, and mild short stature. The autosomal dominant form of brachyolmia is linked to a mutation on the TRPV4 gene located on chromosome 12q24.1-12q24.2 that causes a toxic gain-of function.[5] Further features include radiological involvement of the spine and no significant abnormalities of the long bones. No metaphyseal changes are characteristic of the disease. Brachyolmia is said to be one of the mildest forms of skeletal dysplasia. [6]
Spondylometaphyseal dysplasia of Kozlowski type (SMDK)
editAffected individuals typically have short trunk and short stature, in addition to bowlegs and a waddling gait. Kyphoscoliosis is common and the thorax is generally short and broad. Further features include severe flattening of the spinal bones (platyspondyly), and metaphyseal dysplasia.[7] Medially placed vertebral pedicles are common distinguishing features in SMDK patients; as well as metaphyseal irregularities present in the proximal femur and acetabula.
Nonlethal metatropic dysplasia (MD)
editThe course of the disease is unique in that it evolves from individuals being short-limbed at birth to instead possessing a short-trunk phenotype over the first decade, as a result of rapidly progressing kyphoscoliosis. The main defects are found in the vertebral bodies and metaphyseal portions of the long bones. At birth, a prominent forehead and squared jaw are present. Occasionally, an individual may be born with an elongated coccyx, sometimes referred to as a tail-like appendage.
Case study
editA case study done on a father and son with congenital distal spinal muscular atrophy with autosomal dominant inheritance provides further information on the disease. In this family, the mother and sisters of the young boy did not have the disorder but the father had been born with abnormal feet and had had muscle wasting below his knees. The father appeared to have more involvement in his legs than that of his son. This case is possibly the first well documented of the distal spinal muscular atrophy with involvement in both legs and arms and suggests distal SMA can be a slowly progressing disorder since the father still had involvement in his arms at an older age. This case study also suggested that SMA with autosomal dominant inheritance is much less common in children than SMA with autosomal recessive inheritance however; there was no significant difference in severity seen between the two types of inheritance[8].
References
- ^ Krakow D, Vriens J, Camacho N; et al. (2009). "Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia". Am. J. Hum. Genet. 84 (3): 307–15. doi:10.1016/j.ajhg.2009.01.021. PMC 2667978. PMID 19232556.
{{cite journal}}: Explicit use of et al. in:|author=(help); Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Camacho N, Krakow D, Johnykutty S; et al. (2010). "Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia". Am. J. Med. Genet. A. 152A (5): 1169–77. doi:10.1002/ajmg.a.33392. PMID 20425821.
{{cite journal}}: Explicit use of et al. in:|author=(help); Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Isozumi K, DeLong R, Kaplan J; et al. (1996). "Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31". Hum. Mol. Genet. 5 (9): 1377–82. doi:10.1093/hmg/5.9.1377. PMID 8872481.
{{cite journal}}: Explicit use of et al. in:|author=(help); Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Zimoń M, Baets J, Auer-Grumbach M; et al. (2010). "Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies". Brain. 133 (Pt 6): 1798–809. doi:10.1093/brain/awq109. PMC 2912694. PMID 20460441.
{{cite journal}}: Explicit use of et al. in:|author=(help); Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Rock MJ, Prenen J, Funari VA; et al. (2008). "Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia". Nat. Genet. 40 (8): 999–1003. doi:10.1038/ng.166. PMC 3525077. PMID 18587396.
{{cite journal}}: Explicit use of et al. in:|author=(help); Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Andreucci E, Aftimos S, Alcausin M; et al. (2011). "TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families". Orphanet J Rare Dis. 6: 37. doi:10.1186/1750-1172-6-37. PMC 3135501. PMID 21658220.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link) - ^ Nishimura G, Lausch E, Savarirayan R; et al. (2012). "TRPV4-associated skeletal dysplasias". Am J Med Genet C Semin Med Genet. 160C (3): 190–204. doi:10.1002/ajmg.c.31335. PMID 22791502.
{{cite journal}}: Explicit use of et al. in:|author=(help); Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Adams, C. (1998). Congenital autosomal dominant distal spinal muscular atrophy. Neuromuscular Disorder, 8(6), 405-408.