Congenital Muscular Dystrophy Type 1a

Description

Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Muscular Dystrophy Type 1a

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cognitive impairment
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy

And another 74 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available CONGENITAL MUSCULAR DYSTROPHY TYPE 1A have a estimated prevalence of 0.3 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Congenital Muscular Dystrophy Type 1a Is also known as muscular dystrophy, congenital merosin-deficient, cmd1a, merosin-negative congenital muscular dystrophy, mdc1a, congenital muscular dystrophy due to laminin alpha2 deficiency.

Researches and researchers

Doctors, researchs, and experts related to Congenital Muscular Dystrophy Type 1a extracted from public data.

Congenital Muscular Dystrophy Type 1a Experts map



Current Researchs and researchers

  • GARCHES — Pr Brigitte ESTOURNET-MATHIAUD

    Principal investigator of clinical trial - Contact person of registry - Coordinator of research network

    • Institution/s:
      — Service de Neurologie et réanimation pédiatriques, CHU Paris IdF Ouest - Hôpital Raymond Poincaré
    • Research area/topic::

      Réseau des Dystrophies musculaires congénitales - DMC


  • MILANO — Dr Stefano C PREVITALI

    Investigator of research project

    • Institution/s:
      — Dipartimento di Biotecnologie, IRCCS Ospedale San Raffaele
      — Istituto di Neurologia Sperimentale, IRCCS Ospedale San Raffaele
    • Research area/topic::

      Modulation of the cyclin inhibitor p27 to ameliorate Merosin Deficient Congenital Muscular Dystrophy (MDC1A)


  • TROINA — Dr Eugenia BORGIONE

    Investigator of research project

    • Institution/s:
      — IRCCS OASI Maria Santissima
    • Research area/topic::

      Mutational analysis of the genes POMGnT1, FKRP, and LARGE FKTN in congenital muscular dystrophy type 1A


  • LUND — Pr Madeleine DURBEEJ-HJALT

    Investigator of research project

    • Institution/s:
      — Lund University
    • Research area/topic::

      Laminins and Cib2 in congenital muscular dystrophy


  • LIESTAL — Dr Thomas MEIER

    Investigator of research project

    • Institution/s:
      — Santhera Pharmaceuticals
    • Research area/topic::

      Non-clinical development of omigapil (SNT 201'317) for the potential treatment of congenital muscular dystrophy



Mendelian

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Congenital Muscular Dystrophy Type 1a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
50 %
Poretti-Boltshauser syndrome (sequence analysis of LAMA1 gene).

By CGC Genetics (Portugal).

LAMA1
Specificity
100 %
Genes
50 %
Poretti-Boltshauser syndrome (sequence analysis of LAMA1 gene).

By CGC Genetics (Portugal).

LAMA1
Specificity
100 %
Genes
50 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 286 more genes
Specificity
1 %
Genes
50 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Poretti-Boltshauser syndrome.

By Centogene AG - the Rare Disease Company (Germany).

LAMA1
Specificity
100 %
Genes
50 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH (Germany).

RPIA, SACS, ATXN1, ATXN10, ATXN2, ATXN7, SCN2A, SLC17A5, SLC1A3, SLC6A1, SLC9A1, SNAP25, BTD, SPG7, SPR, SPTBN2, STUB1, TBP, TWNK, ACO2 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
50 %
Single gene testing LAMA1.

By CeGaT GmbH (Germany).

LAMA1
Specificity
100 %
Genes
50 %

We have 100 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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