Create issue ticket

15 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Onset in Young Adulthood, Primarily Affects Distal Lower Limbs

  • Distal Spinal Muscular Atrophy Type 3

    Although respiratory complications are a constant threat, children with type 2 SMA usually live to young adulthood and many live longer.[betterhealth.vic.gov.au] Affects primarily distal muscles of lower limbs, non-progressive, rare, allelic with SPSMA and CMT2C Scapuloperoneal spinal muscular atrophy (SPSMA) Scapuloperoneal neurogenic[ipfs.io] Spinal muscular atrophy is characterised by slowly progressive muscle weakness and atrophy of the limb muscles associated with motor neurone loss in the spinal cord.[patient.info]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    Both CMT2D and dSMA-V (dHMN5A) are usually characterized by disease onset in adolescence or young adulthood and initial manifestations of weakness and atrophy of the hand[journals.plos.org] weakness DHMN8 600175 TRPV4 12q24.11 Autosomal dominant Congenital distal spinal muscular atrophy Affects primarily distal muscles of lower limbs, non-progressive, rare DHMNJ[en.wikipedia.org] The main hereditary LMNSs in adulthood are Kennedy's disease, late-onset spinal muscular atrophy and distal hereditary motor neuropathies.[em-consulte.com]

  • Limb-Girdle Muscular Dystrophy Type 1F

    Onset may occur in childhood, adolescence, young adulthood, or even later.[rarediseases.info.nih.gov] Autosomal dominant limb-girdle muscular dystrophy-2 is a myopathy characterized by proximal muscle weakness primarily affecting the lower limbs, but also affecting the upper[ncbi.nlm.nih.gov] Specifically, LGMD2B is a slowly progressive disease that causes muscle weakness and wasting ( atrophy ) of the pelvic muscles and muscles of the shoulder girdle. 0003236[rarediseases.info.nih.gov]

  • Limb-Girdle Muscular Dystrophy Type 1H

    […] in young adulthood of distal muscle weakness affecting the upper and lower limbs but sparing the intrinsic hand muscles.[mendelian.co] Cerebral atrophy Difficulty walking Bulbar signs Progressive proximal muscle weakness Skeletal myopathy Ophthalmoparesis External ophthalmoplegia Progressive muscle weakness[mendelian.co] Onset may occur in childhood, adolescence, young adulthood, or even later.[familydiagnosis.com]

  • Limb-Girdle Muscular Dystrophy Type 1G

    Onset may occur in childhood, adolescence, young adulthood, or even later.[familydiagnosis.com] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com] affecting the lower limbs, but also affecting the upper limbs in most patients.[genecards.org]

  • Distal Hereditary Motor Neuropathy Type 1

    […] distal HMN5, CMT2, SPG17, CGL2 CHCHD10 adulthood distal and proximal SMAJ, FTDALS2, IMMD DCTN1 childhood or young adulthood distal HMN7B, ALS, Perry Syndrome DNAJB2 early[invitae.com] […] spinal muscular atrophy Affects primarily distal muscles of lower limbs, non-progressive, rare DHMNJ 605726 SIGMAR1 9p13.3 Autosomal recessive Distal spinal muscular atrophy[en.wikipedia.org] […] adulthood distal DSMA5, CMT2T DYNC1H1 variable (prenatal-onset to late adulthood) distal SMALED1, CMT2O FBXO38 adolescence or adulthood distal HMN2D GARS adolescence or early[invitae.com]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    Although respiratory complications are a constant threat, children with type 2 SMA usually live to young adulthood and many live longer.[betterhealth.vic.gov.au] Spinal muscular atrophy is characterised by slowly progressive muscle weakness and atrophy of the limb muscles associated with motor neurone loss in the spinal cord.[patient.info] Affects primarily distal muscles of lower limbs, non-progressive, rare, allelic with SPSMA and CMT2C Scapuloperoneal spinal muscular atrophy (SPSMA) Scapuloperoneal neurogenic[ipfs.io]

  • Limb-Girdle Muscular Dystrophy Type 1E

    LGMD1A (myotilinopathy, also Myofibrillar myopathies) Onset varies from young adulthood to the mid 70s.[emedicine.medscape.com] affecting the lower limbs, but also affecting the upper limbs in most patients.[genecards.org] […] child- to adulthood Normal to mildly high Rapid in younger Early proximal weakness; Legs Arms contractures; Spinal deformities; Rimmed vacuoles Respiratory insufficiency[now.aapmr.org]

  • Distal Hereditary Motor Neuropathy

    […] distal HMN5, CMT2, SPG17, CGL2 CHCHD10 adulthood distal and proximal SMAJ, FTDALS2, IMMD DCTN1 childhood or young adulthood distal HMN7B, ALS, Perry Syndrome DNAJB2 early[invitae.com] facial weakness and muscle atrophy in the hands ( 2 – 4 ).[spandidos-publications.com] […] spinal muscular atrophy Affects primarily distal muscles of lower limbs, non-progressive, rare DHMNJ 605726 SIGMAR1 9p13.3 Autosomal recessive Distal spinal muscular atrophy[en.wikipedia.org]

  • Distal Hereditary Motor Neuropathy Type 2A

    Onset is insidious, mostly in young adulthood, although symptoms may start as early as one year of age and as late as age 75 17.[centogene.com] weakness DHMN8 600175 TRPV4 12q24.11 Autosomal dominant Congenital distal spinal muscular atrophy Affects primarily distal muscles of lower limbs, non-progressive, rare DHMNJ[en.wikipedia.org] Although respiratory complications are a constant threat, children with type 2 SMA usually live to young adulthood and many live longer.[betterhealth.vic.gov.au]

Similar symptoms