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19 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Primarily Affects Distal Lower Limbs, Weakness of Muscles of Distal Limbs

  • Distal Spinal Muscular Atrophy Type 3

    Most patients present [show symptoms] at the age of 1 to 6 months with respiratory failure and progressive muscle weakness with predominantly distal lower limb muscle involvement[smasupport.com] 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]

  • Distal Hereditary Motor Neuropathy

    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] 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]

  • Limb-Girdle Muscular Dystrophy Type 1F

    Affected individuals also have distal muscle weakness of the hands and lower leg muscles. There is variability in presentation and progression.[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]

  • Scapuloperoneal Spinal Muscular Atrophy

    Clinical hallmarks of SPSMA are muscular atrophy of the shoulders, peroneal and small hand muscles resulting in distal weakness, predominantly of the lower limbs, and pectoral[orpha.net] 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]

  • Distal Hereditary Motor Neuropathy Type 1

    They developed mild symmetrical distal lower limb weakness, muscle wasting, and severe foot… CONTINUE READING[semanticscholar.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] […] disease characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment.[orpha.net]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    OBJECTIVE: Distal hereditary motor neuropathies (dHMN) form a clinically and genetically heterogeneous group of disorders, characterized by muscle weakness and atrophy predominating[ncbi.nlm.nih.gov] 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] […] prominent weakness in the distal muscles of the upper and lower limbs (FDS 6, walking with a walker).[spandidos-publications.com]

  • Limb-Girdle Muscular Dystrophy Type 1E

    In some, the muscle weakness starts in the distal limb muscles rather than in the pectoral and pelvic girdles.[geneticsofpregnancy.com] 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]

  • Limb-Girdle Muscular Dystrophy Type 1G

    Increased connective tissue Proximal muscle weakness in lower limbs Lower limb amyotrophy Limited elbow flexion Abnormality of muscle fibers Late-onset distal muscle weakness[mendelian.co] 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]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.[abcam.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 is characterised by slowly progressive muscle weakness and atrophy of the limb muscles associated with motor neurone loss in the spinal cord.[patient.info]

  • Distal Hereditary Motor Neuropathy Type Jerash

    Definition An autosomal recessive neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade[uniprot.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] Overview Neuropathy, distal hereditary motor, Jerash type: An inherited neuromuscular disease that causes progressive muscle wasting and weakness in the limbs without any[checkorphan.org]