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131 Possible Causes for Early and Severe Foot Extensor Muscle Involvement, Facial Muscle Weakness and Progressive Atrophy, Primarily Affects Distal Lower Limbs

  • 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]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    The degree of motor involvement is highly variable, even within families, and ranges from absent to severe distal muscle weakness and wasting of foot extensors leading to[ojrd.biomedcentral.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] This dissociated sensory involvement is typically seen in patiens with SPTLC1 mutations and occurs in early stages of the disease [ 2 ].[ojrd.biomedcentral.com]

  • Distal Hereditary Motor Neuropathy Type 1

    The degree of motor involvement is highly variable, even within families, and ranges from absent to severe distal muscle weakness and wasting of foot extensors leading to[ojrd.biomedcentral.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] This dissociated sensory involvement is typically seen in patiens with SPTLC1 mutations and occurs in early stages of the disease [ 2 ].[ojrd.biomedcentral.com]

  • Distal Hereditary Motor Neuropathy

    […] 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] The degree of motor involvement is highly variable, even within families, and ranges from absent to severe distal muscle weakness and wasting of foot extensors leading to[ojrd.biomedcentral.com] facial weakness and muscle atrophy in the hands ( 2 – 4 ).[spandidos-publications.com]

  • 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: Early and Severe Foot Extensor Muscle Involvement
  • X-linked 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: Early and Severe Foot Extensor Muscle Involvement
  • 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: Early and Severe Foot Extensor Muscle Involvement
  • 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]

    Missing: Early and Severe Foot Extensor Muscle Involvement
  • 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: Early and Severe Foot Extensor Muscle Involvement
  • Scapuloperoneal Spinal Muscular Atrophy

    Affects primarily distal muscles of lower limbs, non-progressive, rare, allelic with SPSMA and CMT2C Scapuloperoneal spinal muscular atrophy (SPSMA) Scapuloperoneal neurogenic[ipfs.io] 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] […] 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: Early and Severe Foot Extensor Muscle Involvement