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122 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Muscle Fiber Splitting and Fibrosis Seen on Muscle Biopsy, Primarily Affects Distal Lower Limbs

  • Limb-Girdle Muscular Dystrophy Type 1E

    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] Facial weakness, hand weakness, and contractures are uncommon. Progression is slow, and walking is retained. Cardiac and respiratory function is normal.[emedicine.medscape.com]

  • 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: Muscle Fiber Splitting and Fibrosis Seen on Muscle Biopsy
  • 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: Muscle Fiber Splitting and Fibrosis Seen on Muscle Biopsy
  • 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: Muscle Fiber Splitting and Fibrosis Seen on Muscle Biopsy
  • 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: Muscle Fiber Splitting and Fibrosis Seen on Muscle Biopsy
  • X-linked Distal Spinal Muscular Atrophy Type 3

    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] […] amyotrophy 181405 TRPV4 12q24.11 Autosomal dominant or X-linked dominant Affects muscles of lower limbs, non-progressive, rare, allelic with congenital distal spinal muscular[ipfs.io]

    Missing: Muscle Fiber Splitting and Fibrosis Seen on Muscle Biopsy
  • Limb-Girdle Muscular Dystrophy Type 1G

    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] Facial weakness, hand weakness, and contractures are uncommon. Progression is slow, and walking is retained. Cardiac and respiratory function is normal.[emedicine.medscape.com]

    Missing: Muscle Fiber Splitting and Fibrosis Seen on Muscle Biopsy
  • 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] […] 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] Myositis Generalized muscle weakness Ophthalmoplegia Facial palsy Milia Progressive Respiratory insufficiency Dysphonia Bulbar palsy Tremor Cognitive impairment Cerebellar[mendelian.co]

    Missing: Muscle Fiber Splitting and Fibrosis Seen on Muscle Biopsy
  • Distal Hereditary Motor Neuropathy

    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] […] dHMN7B), which is caused by a mutation in the dynactin 1 (DCTN1) gene, is a late-onset disease characterized by respiratory difficulties due to bilateral vocal cord palsy, progressive[spandidos-publications.com]

    Missing: Muscle Fiber Splitting and Fibrosis Seen on Muscle Biopsy
  • 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]

    Missing: Muscle Fiber Splitting and Fibrosis Seen on Muscle Biopsy