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13 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Hyporeflexia, 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] The lower motor neuron involvement in disease can cause LMN manifestations such as fasciculation, atrophy, weakness, and hyporeflexia, Upper motor neurone involvement will[explainmedicine.com]

  • 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] They vary by the specific type and may include hypotonia; hyporeflexia; difficulty sucking, swallowing, and breathing; unmet developmental milestones; and, in more severe[merckmanuals.com]

  • Limb-Girdle Muscular Dystrophy Type 1H

    […] weakness Trophic changes related to pain Autophagic vacuoles Centrally nucleated skeletal muscle fibers Pica Peripheral neuropathy Distal muscle weakness Flexion contracture Hyporeflexia[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] Cerebral atrophy Difficulty walking Bulbar signs Progressive proximal muscle weakness Skeletal myopathy Ophthalmoparesis External ophthalmoplegia Progressive muscle weakness[mendelian.co]

  • 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] Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia /areflexia, and varying degrees of bulbar weakness[amboss.com]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    Common features are muscle weakness (distal or proximal) with atrophy and hyporeflexia, but no sensory involvement. They can be acquired or hereditary.[em-consulte.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] Affected members of a large southern Italian pedigree had distal weakness, wasting, hyporeflexia, and mild panmodal sensory loss.[emedicine.medscape.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] Absent tendon reflexes 0001284 Autosomal dominant inheritance 0000006 Cardiomyopathy Disease of the heart muscle 0001638 Distal amyotrophy Distal muscle wasting 0003693 Hyporeflexia[rarediseases.info.nih.gov]

  • 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] Physical examination revealed only generalized hyporeflexia.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Benign Spinal Muscular Atrophy

    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] They vary by the specific type and may include hypotonia; hyporeflexia; difficulty sucking, swallowing, and breathing; unmet developmental milestones; and, in more severe[merckmanuals.com]

  • Limb-Girdle Muscular Dystrophy Type 1G

    […] amyotrophy Dilated cardiomyopathy Increased variability in muscle fiber diameter Falls Frequent falls Fatty replacement of skeletal muscle Increased endomysial connective tissue Hyporeflexia[mendelian.co] affecting the lower limbs, but also affecting the upper limbs in most patients.[genecards.org] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com]

  • 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] […] common - Between 30% and 50% cases Foot dorsiflexor weakness Commonly - More than 50% cases Gait disturbance Not very common - Between 30% and 50% cases Peripheral neuropathy Hyporeflexia[mendelian.co] […] 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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