Facioscapulohumeral Muscular Dystrophy 2; Fshd2

Description

Facioscapulohumeral muscular dystrophy is a form of muscular dystrophy characterized by muscle weakness that first affects the facial muscles and upper extremities, later progressing to involve the lower extremities. The pattern of weakness is usually asymmetric (summary by Lemmers et al., 2012).FSHD1 (OMIM ), which is clinically indistinguishable from FSHD2, is associated with contraction of the D4Z4 macrosatellite repeat (see {606009}) in the subtelomeric region of chromosome 4q35. The disease mechanisms of FSHD1 and FSHD2 converge at the level of D4Z4 chromatin relaxation and variegated expression of DUX4 in skeletal muscle (summary by Lemmers et al., 2012).

Clinical Features

Top most frequent phenotypes and symptoms related to Facioscapulohumeral Muscular Dystrophy 2; Fshd2

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Pain
  • Fatigue
  • Facial palsy
  • Muscular dystrophy
  • Foot dorsiflexor weakness
  • Scapular winging
  • Pelvic girdle muscle weakness

And another 2 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Facioscapulohumeral Muscular Dystrophy 2; Fshd2 Is also known as facioscapulohumeral muscular dystrophy 2, digenic, fshd1b, muscular dystrophy, facioscapulohumeral, type 2, fshd2, digenic, muscular dystrophy, facioscapulohumeral, type 1b.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Facioscapulohumeral Muscular Dystrophy 2; Fshd2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Muscular Dystrophy Advanced Evaluation.

By Athena Diagnostics Inc (United States).

SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CCDC78, CAPN3, DNAJB6, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5 , (...)

View the complete list with 13 more genes
Specificity
4 %
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 %
Facioscapulohumeral muscular dystrophy 2 (sequence analysis of SMCHD1 gene).

By CGC Genetics (Portugal).

SMCHD1
Specificity
100 %
Genes
100 %
Facioscapulohumeral muscular dystrophy-2 (sequence analysis of SMCHD1 gene and DUX4 haplotype).

By CGC Genetics (Portugal).

SMCHD1, DUX4
Specificity
50 %
Genes
100 %
Congenital muscular dystrophies (NGS panel for 31 genes).

By CGC Genetics (Portugal).

TCAP, TTN, SELENON, SYNE2, SYNE1, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, GMPPB, ANO5, TMEM43, SMCHD1, DMD, DNM2, DPM2, DYSF , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel.

By PreventionGenetics PreventionGenetics (United States).

SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, VCP, CAPN3, DNAJB6, CAV3, LIMS2, TRIM32, TNPO3, FKRP, POMGNT1, POMT2, GMPPB, TRAPPC11, POMK , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Facioscapulohumeral Muscular Dystrophy 2 via SMCHD1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SMCHD1
Specificity
100 %
Genes
100 %
Comprehensive Neuromuscular Sequencing Panel.

By PreventionGenetics PreventionGenetics (United States).

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, SQSTM1, STIM1, SYT2, TCAP, TIA1, TNNI2, TNNT1, TNNT3, TPM2, TPM3, MYOT, TTN , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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