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16 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Peroneal Muscle Weakness, Primarily Affects Distal Lower Limbs

  • Distal Spinal Muscular Atrophy Type 3

    Muscle atrophy and weakness in upper limbs, mainly in the hands, occurred later. Disease progression was very slow and variable.[jmg.bmj.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]

  • Scapuloperoneal Spinal Muscular Atrophy

    […] of face muscles Abnormality of limbs Clinodactyly Metatarsus adductus Peroneal muscle atrophy Peroneal muscle weakness Scapular muscle atrophy Small hand Talipes equinovarus[familydiagnosis.com] 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]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    peroneal then other muscle groups, milder weakness of hand intrinsics and eventually abnormal grip.[now.aapmr.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] […] atrophy with steppage gait, foot drop, mild sensory ataxia, weakness/wasting of hand intrinsic muscles, stocking-glove multimodal sensory loss.[neupsykey.com]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs.[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]

  • Limb-Girdle Muscular Dystrophy Type 1F

    , typically of the humero-peroneal/scapulo-peroneal muscles in the early stages Early contractures of the elbow flexors, achilles tendons and neck extensors resulting in limitation[centogene.com] 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]

  • Distal Hereditary Motor Neuropathy Type 1

    peroneal then other muscle groups, milder weakness of hand intrinsics and eventually abnormal grip.[now.aapmr.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] .  Symmetrical distal LL weakness (intrinsic foot, peroneal & ant tibial muscles)  Champaign bottle shape  UL involvement in 2/3 of cases.  Reflexes  Hypertrophic nerves[slideshare.net]

  • Limb-Girdle Muscular Dystrophy Type 1H

    […] and peroneal muscles weakness; or a distal pattern, with distal weakness in the legs and arms.[doi.org] Cerebral atrophy Difficulty walking Bulbar signs Progressive proximal muscle weakness Skeletal myopathy Ophthalmoparesis External ophthalmoplegia Progressive muscle weakness[mendelian.co] Abstract Muscular dystrophies (MD) refer to a heterogeneous group of disorders associated with ongoing muscle degeneration and regeneration, leading to progressive weakness[doi.org]

  • Distal Hereditary Motor Neuropathy

    The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs.[uniprot.org] 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 1E

    , typically of the humero-peroneal/scapulo-peroneal muscles in the early stages Early contractures of the elbow flexors, achilles tendons and neck extensors resulting in limitation[centogene.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]

  • Distal Hereditary Motor Neuropathy Type 2A

    Other common signs include pyramidal tract involvement and peroneal muscle weakness.[mdsabstracts.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] It begins with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs, later expanding to the proximal leg muscles and/or to the[medical-dictionary.thefreedictionary.com]