Autosomal Dominant Childhood-onset Proximal Spinal Muscular Atrophy With Contractures

Description

SMALED2 is an autosomal dominant form of spinal muscular atrophy characterized by early-childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. The disorder results in delayed walking, waddling gait, difficulty walking, and loss of distal reflexes. Some patients may have foot deformities or hyperlordosis, and some show mild upper motor signs, such as spasticity. Sensation, bulbar function, and cognitive function are preserved. The disorder shows very slow progression throughout life (summary by Oates et al., 2013).For discussion of genetic heterogeneity of lower extremity-predominant spinal muscular atrophy, see SMALED1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Dominant Childhood-onset Proximal Spinal Muscular Atrophy With Contractures

  • Generalized hypotonia
  • Microcephaly
  • Micrognathia
  • Muscle weakness
  • Spasticity
  • Flexion contracture
  • Motor delay
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Talipes equinovarus

And another 46 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Autosomal Dominant Childhood-onset Proximal Spinal Muscular Atrophy With Contractures Is also known as lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures, smaled2.

Researches and researchers

Doctors, researchs, and experts related to Autosomal Dominant Childhood-onset Proximal Spinal Muscular Atrophy With Contractures extracted from public data.

Autosomal Dominant Childhood-onset Proximal Spinal Muscular Atrophy With Contractures Experts map



Current Researchs and researchers

  • PARIS — Dr Stéphane NEDELEC

    Investigator of research project

    • Institution/s:
      — IFM - UMR-S 839 Inserm / UPMC, IFM - Institut du Fer à Moulin
    • Research area/topic::

      Development and characterization of preclinical Human and Mouse models of Spinal Muscular Atrophy to determine the mechanisms of selective motor neuron impairments



Mendelian

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Autosomal Dominant Childhood-onset Proximal Spinal Muscular Atrophy With Contractures Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

UBA1, VRK1, BICD2, TRPV4, DYNC1H1, HSPB8, GARS, HSPB1, HSPB3, IGHMBP2
Specificity
10 %
Genes
100 %
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Spinal muscular atrophy, lower extremity, autosomal dominant, type 2 (sequence analysis of BICD2 gene).

By CGC Genetics (Portugal).

BICD2
Specificity
100 %
Genes
100 %
Spinal muscular atrophy (NGS panel for 21 genes).

By CGC Genetics (Portugal).

SCO2, UBA1, VAPB, VRK1, SLC5A7, CHCHD10, BSCL2, EXOSC8, BICD2, TRPV4, REEP1, DCTN1, FBXO38, PLEKHG5, DYNC1H1, HSPB8, GARS, DNAJB2, IGHMBP2, ASAH1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Congenital Myopathy Sequencing Panel.

By PreventionGenetics PreventionGenetics (United States).

RYR1, BIN1, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, MICU1, SELENON, KLHL41, BICD2, MYO18B, KLHL9, CFL2, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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