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201 Possible Causes for Areflexia of the Upper and Lower Limbs, Facial Muscle Weakness and Progressive Atrophy, 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]

  • 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: Areflexia of the Upper and Lower Limbs
  • 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] Neurological examination revealed a symmetrical severe muscle wasting and weakness in distal lower and upper limbs, with claw hands, footdrop with equinovarus deformity and[ncbi.nlm.nih.gov]

  • 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: Areflexia of the Upper and 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: Areflexia of the Upper and Lower Limbs
  • 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: Areflexia of the Upper and Lower Limbs
  • Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

    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] limb, proximal No Yes Upper limb, distal Yes Yes Lower limb, proximal Yes Yes Lower limb, distal Yes Yes Muscle atrophy Proximal distal Proximal distal (generalized) Sensory[ojrd.biomedcentral.com] […] disorder characterised by weakness and atrophy of facial, bulbar and limb muscles without upper motor neuron (UMN) signs ( figure 1 ).[jnnp.bmj.com]

    Missing: Primarily Affects Distal Lower Limbs
  • Multifocal Motor Neuropathy

    In the first patient the symptoms were slowly progressive with bulbar muscle impairment, generalized weakness, muscular atrophy with cramps and fasciculations.[moh-it.pure.elsevier.com] The second course of chemotherapy was followed by diffuse severe motor impairment predominating in the left upper limb (3/5) and right lower limb (2/5).[jnnp.bmj.com] Marked apraxia of the superior facial district with an inability to perform voluntary saccades and eye closure and speech impairment with reduction of verbal fluency were[moh-it.pure.elsevier.com]

    Missing: Primarily Affects Distal Lower Limbs
  • 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: Areflexia of the Upper and 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]

    Missing: Areflexia of the Upper and Lower Limbs