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19 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Primarily Affects Distal Lower Limbs, Variable Progression

  • Limb-Girdle Muscular Dystrophy Type 1F

    There is variability in presentation and progression.[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] LGMD type 2I (fukutin-related proteinopathy) Variable This is relatively common in northern Europe. There is variable rate of progression.[patient.info]

  • Distal Spinal Muscular Atrophy Type 3

    -Survival into adulthood is variable -Weakness progresses -Requires assistance for all mobility and most ADL's -Aide and or family member is required around the clock -Aggressive[quizlet.com] 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

    As the disease progresses, a variable degree of distal muscle weakness and wasting with lancinating pain may be observed.[spandidos-publications.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] Prognosis MND is usually a rapidly progressive and fatal disease but the rate of progression is variable. [ 23 ] Median survival is two to four years. [ 24 ] End of life care[patient.info]

  • Limb-Girdle Muscular Dystrophy Type 1H

    […] rates of progression Frequent cardiac involvement Colomer et al Neuromusc Disord 2002;12:19-25 28 Localization and Interaction of LGMD Proteins 29 Lamin A/C Lamins A & C[slideplayer.com] Cerebral atrophy Difficulty walking Bulbar signs Progressive proximal muscle weakness Skeletal myopathy Ophthalmoparesis External ophthalmoplegia Progressive muscle weakness[mendelian.co] Clinical findings showed variable expressivity in terms of age at onset and disease severity.[moh-it.pure.elsevier.com]

  • Distal Hereditary Motor Neuropathy Type 1

    The clinical phenotype is variable, but includes progressive weakness and atrophy of the distal muscles, foot deformities, and decreased reflexes.[neurology.testcatalog.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] Disease usually progresses slowly with little disability, although there is substantial disease variability even within the same family.[patient.info]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    -Survival into adulthood is variable -Weakness progresses -Requires assistance for all mobility and most ADL's -Aide and or family member is required around the clock -Aggressive[quizlet.com] 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

    […] age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures.[orpha.net] 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

    […] shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities.[orpha.net] 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]

  • Scapuloperoneal Spinal Muscular Atrophy

    Definition A clinically variable neuromuscular disorder characterized by neurogenic scapuloperoneal amyotrophy, laryngeal palsy, congenital absence of muscles, progressive[uniprot.org] 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]

  • Distal Hereditary Motor Neuropathy

    The clinical phenotype is variable, but includes progressive weakness and atrophy of the distal muscles, foot deformities, and decreased reflexes.[genetics.testcatalog.org] 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]

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