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201 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Fibre Splitting, Primarily Affects Distal Lower Limbs

  • Scapuloperoneal Spinal Muscular Atrophy

    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] […] 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]

  • Distal Spinal Muscular Atrophy Type 3

    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] Bulbar muscular atrophy affects the bulbar and facial muscles with motor neurone loss in the brainstem. [ 1 ] The spinal muscular atrophies (SMAs) are a spectrum of genetically[patient.info]

    Missing: Fibre Splitting
  • Limb-Girdle Muscular Dystrophy Type 2B

    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] These diseases affect the voluntary muscles, which are the muscles that are moved on purpose, such as the arms, legs, fingers, toes, and facial muscles.[rarediseases.info.nih.gov]

    Missing: Primarily Affects Distal Lower Limbs
  • Limb-Girdle Muscular Dystrophy Type 1H

    Cerebral atrophy Difficulty walking Bulbar signs Progressive proximal muscle weakness Skeletal myopathy Ophthalmoparesis External ophthalmoplegia Progressive muscle weakness[mendelian.co] CT of the leg muscles 2 (A) and 7 years (B) after the onset of symptoms. 235 Marconi et al. scattered among normal and hypertrophic fibres, some of the latter showing splitting[myslide.es] […] muscular dystrophy type 1F is an autosomal dominant myopathy characterized by proximal muscle weakness primarily affecting the lower limbs, but also affecting the upper limbs[mendelian.co]

  • Zebra Body Myopathy

    Over time, the muscle weakness progressed to other proximal muscle groups.[jamanetwork.com] Wide variation in fibre diameter, vacuolation, calcification, increased endomysial connective tissue and intra-fibre splitting were prominent in muscle biopsy sections.[ncbi.nlm.nih.gov] Pathological features in a second biopsy performed at the age of 29 years included a wide variation in fibre size, multiple split fibres, excess internal nuclei and endomysial[ncbi.nlm.nih.gov]

    Missing: Primarily Affects Distal Lower Limbs
  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    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 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] […] vocal cord paralysis ; Harper–Young myopathy Infant onset with vocal cord paralysis DHMN7B 607641 DCTN1 2p13.1 Autosomal dominant Adult onset with vocal cord paralysis and facial[en.wikipedia.org]

    Missing: Fibre Splitting
  • Myofibrillar Myopathy Type 4

    Homepage Rare diseases Search Search for a rare disease Late-onset distal myopathy, Markesbery-Griggs type Disease definition A rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg[…][orpha.net]

    Missing: Facial Muscle Weakness and Progressive Atrophy Primarily Affects Distal Lower Limbs
  • Limb-Girdle Muscular Dystrophy Type 1F

    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] 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] affecting the lower limbs, but also affecting the upper limbs in most patients.[genecards.org]

    Missing: Fibre Splitting
  • Vacuolar Neuromyopathy

    The disease was characterized by onset from the late teens to early 50s with distal leg weakness and atrophy, development of generalized muscle weakness with distal-to-proximal[ncbi.nlm.nih.gov] A muscle biopsy of the right deltoid showed an increased size variability, fibre splitting, and the presence of internal nuclei; several fib res (8%) contained vacuoles ([functionalneurology.com] weak- ness and atrophy with distal-to-proximal progression sparing facial and ocular muscles, dysphonia and dysphagia, pes cavus and areflexia, variable clinical expression[documents.tips]

    Missing: Primarily Affects Distal Lower Limbs
  • Distal Hereditary Motor Neuropathy Type 1

    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 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] […] vocal cord paralysis ; Harper–Young myopathy Infant onset with vocal cord paralysis DHMN7B 607641 DCTN1 2p13.1 Autosomal dominant Adult onset with vocal cord paralysis and facial[en.wikipedia.org]

    Missing: Fibre Splitting