Spinal Muscular Atrophies of Childhood

"Spinal Muscular Atrophies of Childhood" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

A group of recessive inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)

Descriptor ID	D014897
MeSH Number(s)	C10.228.854.468.800 C10.574.500.812 C10.574.562.500.750 C10.668.467.500.750 C16.320.400.765
Concept/Terms	Spinal Muscular Atrophies of Childhood Spinal Muscular Atrophies of Childhood Muscular Atrophy, Spinal, Type II Muscular Atrophy, Spinal, Type II Spinal Muscular Atrophy Type 2 Type II Spinal Muscular Atrophy Spinal Muscular Atrophy Type II Spinal Muscular Atrophy, Type II HMN (Hereditary Motor Neuropathy) Proximal Type I HMN (Hereditary Motor Neuropathy) Proximal Type I Spinal Muscular Atrophy, Infantile Muscular Atrophy, Spinal, Infantile Werdnig-Hoffmann Disease Werdnig Hoffmann Disease Muscular Atrophy, Spinal, Type I Spinal Muscular Atrophy Type I SMA, Infantile Acute Form Type I Spinal Muscular Atrophy Proximal Hereditary Motor Neuropathy Type I Werdnig Hoffman Disease Muscular Atrophy, Infantile Infantile Muscular Atrophy Spinal Muscular Atrophy 1 Infantile Spinal Muscular Atrophy Spinal Muscular Atrophy, Type I Juvenile Spinal Muscular Atrophy Juvenile Spinal Muscular Atrophy Spinal Muscular Atrophy Type III Spinal Muscular Atrophy, Type III Type III Spinal Muscular Atrophy Muscular Atrophy, Juvenile Juvenile Muscular Atrophy Kugelberg-Welander Disease Kugelberg Welander Disease Spinal Muscular Atrophy, Type 3 Kugelberg-Welander Syndrome Kugelberg Welander Syndrome Spinal Muscular Atrophy, Mild Childhood and Adolescent Form Spinal Muscular Atrophy, Juvenile Muscular Atrophy, Spinal, Type III Muscular Atrophy, Spinal, Infantile Chronic Form Muscular Atrophy, Spinal, Infantile Chronic Form Muscular Atrophy, Spinal, Intermediate Type

Below are MeSH descriptors whose meaning is more general than "Spinal Muscular Atrophies of Childhood".

Diseases [C]
Nervous System Diseases [C10]
Central Nervous System Diseases [C10.228]
Spinal Cord Diseases [C10.228.854]
Muscular Atrophy, Spinal [C10.228.854.468]
Spinal Muscular Atrophies of Childhood [C10.228.854.468.800]
Neurodegenerative Diseases [C10.574]
Heredodegenerative Disorders, Nervous System [C10.574.500]
Spinal Muscular Atrophies of Childhood [C10.574.500.812]
Motor Neuron Disease [C10.574.562]
Muscular Atrophy, Spinal [C10.574.562.500]
Spinal Muscular Atrophies of Childhood [C10.574.562.500.750]
Neuromuscular Diseases [C10.668]
Motor Neuron Disease [C10.668.467]
Muscular Atrophy, Spinal [C10.668.467.500]
Spinal Muscular Atrophies of Childhood [C10.668.467.500.750]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Heredodegenerative Disorders, Nervous System [C16.320.400]
Spinal Muscular Atrophies of Childhood [C16.320.400.765]

Below are MeSH descriptors whose meaning is related to "Spinal Muscular Atrophies of Childhood".

Below are MeSH descriptors whose meaning is more specific than "Spinal Muscular Atrophies of Childhood".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Spinal Muscular Atrophies of Childhood" by people in this website by year, and whether "Spinal Muscular Atrophies of Childhood" was a major or minor topic of these publications.

Bar chart showing 4 publications over 3 distinct years, with a maximum of 2 publications in 2022

To see the data from this visualization as text, click here.

Year	Major Topic	Total
2019	1	1
2022	2	2
2024	1	1

Below are the most recent publications written about "Spinal Muscular Atrophies of Childhood" by people in Profiles.

Matesanz SE, Brigatti KW, Young M, Yum SW, Strauss KA. Preemptive dual therapy for children at risk for infantile-onset spinal muscular atrophy. Ann Clin Transl Neurol. 2024 Jul; 11(7):1868-1878.

View in: PubMed
Servais L, Day JW, De Vivo DC, Kirschner J, Mercuri E, Muntoni F, Proud CM, Shieh PB, Tizzano EF, Quijano-Roy S, Desguerre I, Saito K, Faulkner E, Benguerba KM, Raju D, LaMarca N, Sun R, Anderson FA, Finkel RS. Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry. J Neuromuscul Dis. 2024; 11(2):425-442.

View in: PubMed
Strauss KA, Farrar MA, Muntoni F, Saito K, Mendell JR, Servais L, McMillan HJ, Finkel RS, Swoboda KJ, Kwon JM, Zaidman CM, Chiriboga CA, Iannaccone ST, Krueger JM, Parsons JA, Shieh PB, Kavanagh S, Tauscher-Wisniewski S, McGill BE, Macek TA. Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial. Nat Med. 2022 07; 28(7):1381-1389.

View in: PubMed
Strauss KA, Farrar MA, Muntoni F, Saito K, Mendell JR, Servais L, McMillan HJ, Finkel RS, Swoboda KJ, Kwon JM, Zaidman CM, Chiriboga CA, Iannaccone ST, Krueger JM, Parsons JA, Shieh PB, Kavanagh S, Wigderson M, Tauscher-Wisniewski S, McGill BE, Macek TA. Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. Nat Med. 2022 07; 28(7):1390-1397.

View in: PubMed
Macey MB, Ho DT, Parres CM, Small JE. Spinal Epidural Venous Plexus Pathology in Hirayama Disease. J Clin Neuromuscul Dis. 2019 Sep; 21(1):47-51.

View in: PubMed
Quinn C, Paganoni S, Cochrane T. Clinical improvement of monomelic amyotrophy after avoidance of sustained neck flexion. J Clin Neuromuscul Dis. 2014 Jun; 15(4):191-2.

View in: PubMed
Phillips DP, Roye DP, Farcy JP, Leet A, Shelton YA. Surgical treatment of scoliosis in a spinal muscular atrophy population. Spine (Phila Pa 1976). 1990 Sep; 15(9):942-5.

View in: PubMed

People

Explore

Similar Concepts

Top Journals