Rare Disease Library

Adenylosuccinate synthetase-like 1-related distal myopathy

ADSSL1-related distal myopathy

Alpha-B crystallin-related late-onset myopathy

Alpha-B crystallin-related late-onset distal myopathy · Late-onset distal crystallinopathy

Alpha-crystallinopathy

CRYAB-related myofobrillar myopathy

Autosomal dominant ACTN2-related distal myopathy

Autosomal dominant distal myopathy

Autosomal recessive ACTN2-related distal myopathy

Autosomal recessive distal myopathy

Autosomal recessive distal nebulin myopathy

Nebulin-related early-onset distal myopathy

BAG3-related myofibrillar myopathy

MFM6 · Myofibrillar myopathy type 6

COQ7-related distal hereditary motor neuropathy

Desmin-related myopathy with Mallory body-like inclusions

Early-onset desmin-related myopathy

Desminopathy

Desmin-related myofibrillar myopathy

Distal myopathy

Distal muscular dystrophy

Distal myopathy, Tateyama type

Distal myopathy, Welander type

WDM

Distal myotilinopathy

DNAJB4-related distal myopathy

DNAJB6-related distal myopathy

Early-onset autosomal recessive TTN-related distal myopathy

Young or early adult onset recessive distal titinopathy

FLNC-related handgrip and calf weakness-distal myopathy

Distal ABD-filaminopathy

GNE myopathy

DMRV · Distal myopathy with rimmed vacuoles

Hereditary myopathy with lactic acidosis due to ISCU deficiency

Myopathy with exercise intolerance, Swedish type · ISCU-related myopathy

HNRNPA1-related adult-onset distal myopathy

Distal myopathy type 3 · MPD3

KLHL9-related early-onset distal myopathy

Laing distal myopathy

Distal myopathy type 1 · MPD1

Late-onset distal myopathy, Markesbery-Griggs type

ZASP-related myofibrillar myopathy

Mitochondrial DNA-related mitochondrial myopathy

mtDNA-related mitochondrial myopathy · Maternally-inherited mitochondrial myopathy

Native American myopathy

Congenital myopathy-cleft palate-malignant hyperthermia syndrome · Bailey-Bloch congenital myopathy

OBSOLETE: LIMS2-related myopathy

SMPX-related distal myopathy

TARDBP-related predominantly upper-limb distal myopathy

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy

Vocal cord and pharyngeal distal myopathy

Distal myopathy with vocal cord weakness · VCPDM

Wild type ABeta2M amyloidosis

ABeta2Mwt amyloidosis · Dialysis-related amyloidosis

X-linked distal myopathy

X-linked distal spinal muscular atrophy type 3

ATP7A-related distal motor neuropathy · DSMAX