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Late adult-onset spinal muscular atrophy with lower extremity predominance (SMALED).
Aziz I, Davis M, Liang C. Aziz I, et al. BMJ Case Rep. 2022 Mar 30;15(3):e248297. doi: 10.1136/bcr-2021-248297. BMJ Case Rep. 2022. PMID: 35354563 Free PMC article.
An elderly man in his early 80s presented with a 6-month history of worsening lower limb weakness on a background of a longer-standing waddling gait. ...After little progression over the course of 18 months, motor neuron disease was deemed less likely. Genetic testing reve …
An elderly man in his early 80s presented with a 6-month history of worsening lower limb weakness on a background of a longer-standin …
Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.
Harms MB, Allred P, Gardner R Jr, Fernandes Filho JA, Florence J, Pestronk A, Al-Lozi M, Baloh RH. Harms MB, et al. Neurology. 2010 Aug 10;75(6):539-46. doi: 10.1212/WNL.0b013e3181ec800c. Neurology. 2010. PMID: 20697106 Free PMC article.
OBJECTIVE: Spinal muscular atrophies (SMAs) are hereditary disorders characterized by weakness from degeneration of spinal motor neurons. ...We demonstrate linkage to a 6.1-Mb interval on 14q32 and propose calling this disorder spinal muscular …
OBJECTIVE: Spinal muscular atrophies (SMAs) are hereditary disorders characterized by weakness from degeneration of spinal …
Expanding the phenotype of DYNC1H1-associated diseases with a rare variant resulting in spinal muscular atrophy with lower extremity predominance (SMA-LED) and upper motor neuron signs.
Lee J, Millington P, Dayasiri K, Ramdas S, Jayawant S, Anand G. Lee J, et al. Turk J Pediatr. 2023;65(3):531-535. doi: 10.24953/turkjped.2022.513. Turk J Pediatr. 2023. PMID: 37395972 Free article.
BACKGROUND: Spinal muscular atrophy with lower extremity predominance (SMA-LED) is an autosomal dominant disorder. Since SMA-LED affects lower motor neurons, the disease is characterized by weakness and atrophy of lower …
BACKGROUND: Spinal muscular atrophy with lower extremity predominance (SMA-LED) is an autosomal do …
Spinal muscular atrophy with predominant lower extremity (SMA-LED) with no signs other than pure motor symptoms at the intersection of multiple overlap syndrome.
Tekin HG, Edem P, Özyılmaz B. Tekin HG, et al. Brain Dev. 2022 Apr;44(4):294-298. doi: 10.1016/j.braindev.2021.12.001. Epub 2021 Dec 30. Brain Dev. 2022. PMID: 34974950
BACKGROUND: Mutations in the cytoplasmic dynein 1 heavy chain gene (DYNC1H1) have been associated with spinal muscular atrophy with predominant lower extremity involvement (SMA-LED), Charcot-Marie-Tooth 2O (CMT2O) disease, cortical migrat …
BACKGROUND: Mutations in the cytoplasmic dynein 1 heavy chain gene (DYNC1H1) have been associated with spinal muscular atro …
A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutation.
Ueda Y, Suganuma T, Narumi-Kishimoto Y, Kaname T, Sato T. Ueda Y, et al. Brain Dev. 2021 Jan;43(1):135-139. doi: 10.1016/j.braindev.2020.08.006. Epub 2020 Sep 2. Brain Dev. 2021. PMID: 32888736
BACKGROUND: Heterozygous variants in BICD2 cause autosomal dominant spinal muscular atrophy with lower extremity predominance. These variants are also identified in individuals with severe forms of congenital muscle atrophy represe …
BACKGROUND: Heterozygous variants in BICD2 cause autosomal dominant spinal muscular atrophy with lower extrem …
A novel BICD2 mutation of a patient with Spinal Muscular Atrophy Lower Extremity Predominant 2.
Tumurkhuu M, Batbuyan U, Yuzawa S, Munkhsaikhan Y, Batmunkh G, Nishimura W. Tumurkhuu M, et al. Intractable Rare Dis Res. 2021 May;10(2):102-108. doi: 10.5582/irdr.2021.01004. Intractable Rare Dis Res. 2021. PMID: 33996355 Free PMC article.
Both inherited and de novo variants of BICD2 are reported with autosomal dominant spinal muscular atrophy with lower extremity predominance (SMALED2). ...
Both inherited and de novo variants of BICD2 are reported with autosomal dominant spinal muscular atrophy with lower …
Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.
Rudnik-Schöneborn S, Deden F, Eggermann K, Eggermann T, Wieczorek D, Sellhaus B, Yamoah A, Goswami A, Claeys KG, Weis J, Zerres K. Rudnik-Schöneborn S, et al. Muscle Nerve. 2016 Sep;54(3):496-500. doi: 10.1002/mus.25114. Epub 2016 Jul 9. Muscle Nerve. 2016. PMID: 26998597
INTRODUCTION: Heterozygous BICD2 gene mutations cause a form of autosomal dominant spinal muscular atrophy with lower extremity predominance (SMALED). ...One patient died of unrelated reasons at age 52 years. Autopsy revealed no upper mot …
INTRODUCTION: Heterozygous BICD2 gene mutations cause a form of autosomal dominant spinal muscular atrophy with lowe …
Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation.
Mei Y, Jiang Y, Zhang Z, Zhang H. Mei Y, et al. BMC Med Genomics. 2023 Mar 7;16(1):47. doi: 10.1186/s12920-023-01472-4. BMC Med Genomics. 2023. PMID: 36882741 Free PMC article.
BACKGROUND: Spinal muscular atrophy, lower extremity predominant (SMALED) is a type of non-5q spinal muscular atrophy characterised by weakness and atrophy of lower limb muscles without sensory abnormali …
BACKGROUND: Spinal muscular atrophy, lower extremity predominant (SMALED) is a type of non-5q s …
Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant.
Yamamoto K, Ohashi K, Fujimoto M, Ieda D, Nakamura Y, Hattori A, Kaname T, Ieda K, Nishino I, Saitoh S. Yamamoto K, et al. Brain Dev. 2022 Sep;44(8):578-582. doi: 10.1016/j.braindev.2022.04.006. Epub 2022 May 6. Brain Dev. 2022. PMID: 35527075
INTRODUCTION: Bicaudal D homolog 2 (BICD2) is a causative gene of autosomal-dominant lower extremity-predominant spinal muscular atrophy-2 (SMA-LED2). ...
INTRODUCTION: Bicaudal D homolog 2 (BICD2) is a causative gene of autosomal-dominant lower extremity-predominant spi …
A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance.
Niu Q, Wang X, Shi M, Jin Q. Niu Q, et al. Neurol Genet. 2015 Jul 16;1(2):e20. doi: 10.1212/NXG.0000000000000017. eCollection 2015 Aug. Neurol Genet. 2015. PMID: 27066557 Free PMC article.
Recent studies have identified mutations in the dynein heavy chain gene (DYNC1H1), which lead to 2 closely related human motor neuropathies: a dominant spinal muscular atrophy with lower extremity predominance (SMALED) and axonal Charcot- …
Recent studies have identified mutations in the dynein heavy chain gene (DYNC1H1), which lead to 2 closely related human motor neuropathies: …
66 results