Create issue ticket

18 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Primarily Affects Distal Lower Limbs, Scoliosis

  • Distal Spinal Muscular Atrophy Type 3

    Oftentimes scoliosis is present in patients with Type 3 or Type 4 SMA.[sinicropispine.com] 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]

  • Scapuloperoneal Spinal Muscular Atrophy

    Additional features, such as vocal cord paralysis, scoliosis and/or arthrogryposis, are likely to occur.[ncbi.nlm.nih.gov] Scapuloperoneal spinal muscular atrophy: Type 1 (AD form) appears at age 14-26, with weakness, distal leg atrophy, and absent tendon reflexes and sparing of intrinsic foot[emedicine.medscape.com] Affects primarily distal muscles of lower limbs, non-progressive, rare, allelic with SPSMA and CMT2C Scapuloperoneal spinal muscular atrophy (SPSMA) Scapuloperoneal neurogenic[ipfs.io]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    Orthopedic • Considerations: • Scoliosis • SMA2 SMA3 SMA1 • Early onset: 4-9 y • Bracing may slow progression, but wont stop it • Bracing may decrease tidal breathing if not[slideshare.net] 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]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    This can also be associated with a form of scoliosis called kyphosis.[cmtausa.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] Spinal curvature (scoliosis) is often a problem requiring bracing and surgery. Children learn to sit without help, but generally do not stand or walk independently.[betterhealth.vic.gov.au]

  • Limb-Girdle Muscular Dystrophy Type 1F

    In the more severely affected patients, distal muscle weakness occurred in the advanced stages of the disease, when also winging scapulae, scoliosis, and occasional facial[link.springer.com] 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]

  • Spinal Muscular Atrophy Type 2

    Age 6 scoliosis progressed to 78 degrees and PSF with the unit rod was performed.[gait.aidi.udel.edu] […] spinal muscular atrophy Distal hereditary motor neuronopathy type 8 (DHMN8) 600175 TRPV4 12q24.11 Autosomal dominant Affects primarily distal muscles of lower limbs, non-progressive[en.wikipedia.org] 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]

  • Limb-Girdle Muscular Dystrophy Type 1E

    Affected individuals may experience hypotonia, contractures, joint hyperlaxity, and scoliosis.[rarediseases.org] 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]

  • Limb-Girdle Muscular Dystrophy Type 1G

    […] adhalinopathy, primary;alpha-sarcoglycanopathy; lgmd2d; limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency Related symptoms: Autosomal recessive inheritance Scoliosis[mendelian.co] 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

    Swallowing, coughing, and breathing problems may occur but are typically less common Muscle aching and joint stiffness symptoms Children may develop spinal problems such as scoliosis[togetherinsma.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] Introduction often occurs in children with CMT ( 10-20%) characteristic left thoracic and kyphotic curve distinguish from idiopathic scoliosis Treatment nonoperative bracing[orthobullets.com]

  • Limb-Girdle Muscular Dystrophy Type 1H

    Myopathic pattern 1551 11.0 Muscle weakness II:5 57 50 F Myopathic pattern 997 8.7 Muscle weakness II:9 49 45 F Myopathic pattern 2139 6 Muscle weakness; calf hypertrophy Scoliosis[ncbi.nlm.nih.gov] Cerebral atrophy Difficulty walking Bulbar signs Progressive proximal muscle weakness Skeletal myopathy Ophthalmoparesis External ophthalmoplegia Progressive muscle weakness[mendelian.co] Bracing of the spine may limit the progression of scoliosis.[now.aapmr.org]

Similar symptoms