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235 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Mild Dysphonia, 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

    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: Mild Dysphonia
  • Muscular Dystrophy

    On physical examination as an adult, we observed diffuse non-scarring alopecia on the scalp, onychodystrophy (pachyonychia) in all 20 nails, dental decay, mild dysphonia,[ncbi.nlm.nih.gov] Abstract Facioscapulohumeral muscular dystrophy is an autosomal-dominant, slowly progressive myopathy that involves facial, shoulder, and upper arm muscles.[ncbi.nlm.nih.gov] Facial muscle atrophy and weakness leads to drooping of the lower lip, which has unfavorable functional and aesthetic outcomes.[ncbi.nlm.nih.gov]

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

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

    Missing: Mild Dysphonia
  • Distal Hereditary Motor Neuropathy Type 1

    […] 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] 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] […] paralysis DHMN7B 607641 DCTN1 2p13.1 Autosomal dominant Adult onset with vocal cord paralysis and facial weakness DHMN8 600175 TRPV4 12q24.11 Autosomal dominant Congenital distal[en.wikipedia.org]

    Missing: Mild Dysphonia
  • 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: Mild Dysphonia
  • Fazio-Londe Disease

    Mild dysphonia and dysarthria persisted due to moderate vocal cord and facial muscle paresis.[pn.bmj.com] Symptoms include pharyngeal muscle weakness (involved with swallowing), weak jaw and facial muscles, progressive loss of speech, and tongue muscle atrophy.[secure.ssa.gov] Symptoms include pharyngeal muscle weakness, weak jaw and facial muscles, progressive loss of speech, and tongue muscle atrophy.[motor-neuron.com]

    Missing: Primarily Affects Distal Lower Limbs
  • Amyotrophic Lateral Sclerosis

    The disease progressed slowly with mild bulbar involvement.[dx.doi.org] In cranial nerves, common symptoms are atrophy of facial muscles and progressive bulbar palsy (PBP).[flexikon.doccheck.com] Symptoms include pharyngeal muscle weakness (involved with swallowing), weak jaw and facial muscles, progressive loss of speech, and tongue muscle atrophy.[web.archive.org]

    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: Mild Dysphonia
  • 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: Mild Dysphonia