Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

DMD, TGFB1, POSTN, CD4, CCL2, BEST1, CLCN1, DAG1, UTRN, SGCG, SGCA, CAPN3, TTN, FST, FKRP, DYSF, ACE, TNF, ELP1, CCL27, MGAM, HSPB3, RGN, TIMP2, LARGE1, VIPR1, ACTB, WNT16, LDB3, RSPO3

DMD, TGFB1, POSTN, CD4, CCL2, BEST1, CLCN1, DAG1, UTRN, SGCG, SGCA, CAPN3, TTN, FST, FKRP, DYSF, ACE, TNF, ELP1, CCL27, MGAM, HSPB3, RGN, TIMP2, LARGE1, VIPR1, ACTB, WNT16, LDB3, RSPO3, LINC01672, MIR31, MIR30C2, MIR30C1, ANO5, FAM168B, UHMK1, ASRGL1, TRIM32, CPED1, MMEL1, DANCR, NAT10, TPPP3, PDLIM3, ATRNL1, TIMP1, SHBG, TAZ, DECR1, HLA-DMB, GK, GH1, MSTN, GAA, FN1, DTNA, CTLA4, SLPI, CREB1, BMP6, ALDH7A1, ATHS, APRT, ALPP, ALOX15, HSPB1, HSPB2, LMNA, MB, SI, SHOX, ALOX12, SGCB, SELENOP, SALL1, PTH, PRL, PLXNB1, NOS1, MYF6, MSH2, MMP9, MLH1, MFAP1, H3P14

Drugs

(+)-Epicatechin, Ataluren ( TRANSLARNA ), Givinostat

(+)-Epicatechin, Ataluren ( TRANSLARNA ), Givinostat, idebenone ( SAN IDEBENONE, SOVRIMA, RAXONE )

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Hastings et al. (1980) described 2 unrelated families, each with father and son with pseudohypertrophic muscular dystrophy. The paternal grandfather in 1 family may have been affected also. The phenotype resembled that of Becker muscular dystrophy (300376). The mothers showed no evidence of carrier status, but both fathers had pseudohypertrophic calves and one gave a history of weakness in childhood with subsequent improvement. Muscle histology in all 4 showed changes like those of Becker muscular dystrophy with, in addition, central cores and internalized capillaries in type I fibers. The internalized capillaries were considered unique to this disorder.