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10 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Onset at Birth or in Infancy, Primarily Affects Distal Lower Limbs

  • Limb-Girdle Muscular Dystrophy Type 1F

    In congenital muscular dystrophy (CMD), the muscle weakness typically presents shortly after birth to early infancy.[blueprintgenetics.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]

  • Limb-Girdle Muscular Dystrophy Type 1G

    Early-onset myopathies are inherited muscle disorders that manifest typically from birth or infancy with hypotonia, muscle weakness, and delayed motor development.[binfo.ncku.edu.tw] 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]

  • Scapuloperoneal Spinal Muscular Atrophy

    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: 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] […] spinal muscular atrophy Distal hereditary motor neuronopathy type 8 (DHMN8) 600175 TRPV4 12q24.11 Autosomal dominant Affects primarily distal muscles of lower limbs, non-progressive[en.wikipedia.org]

  • Limb-Girdle Muscular Dystrophy Type 1E

    In congenital muscular dystrophy (CMD), the muscle weakness typically presents shortly after birth to early infancy.[blueprintgenetics.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]

  • Spinal Muscular Atrophy Type 2

    Children who display symptoms at birth or in infancy typically have the lowest level of functioning (type 1).[mda.org] 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] […] spinal muscular atrophy Distal hereditary motor neuronopathy type 8 (DHMN8) 600175 TRPV4 12q24.11 Autosomal dominant Affects primarily distal muscles of lower limbs, non-progressive[en.wikipedia.org]

  • Distal Hereditary Motor Neuropathy Type 7

    […] at birth or in infancy.[2] Duchenne muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy are some examples of the muscular dystrophies. [3][explainmedicine.com] 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] […] clinical features of the disease. [7] Congenital Muscular Dystrophy Congenital muscular dystrophies are a group of disorders genetic neuromuscular disorders that has the onset[explainmedicine.com]

  • Distal Hereditary Motor Neuropathy Type 2A

    […] at birth or in infancy.[2] Duchenne muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy are some examples of the muscular dystrophies. [3][explainmedicine.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] […] clinical features of the disease. [7] Congenital Muscular Dystrophy Congenital muscular dystrophies are a group of disorders genetic neuromuscular disorders that has the onset[explainmedicine.com]

  • Distal Hereditary Motor Neuropathy Type 2

    […] at birth or in infancy.[2] Duchenne muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy are some examples of the muscular dystrophies. [3][explainmedicine.com] 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] […] clinical features of the disease. [7] Congenital Muscular Dystrophy Congenital muscular dystrophies are a group of disorders genetic neuromuscular disorders that has the onset[explainmedicine.com]

  • Distal Hereditary Motor Neuropathy Type 7A

    […] at birth or in infancy.[2] Duchenne muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy are some examples of the muscular dystrophies. [3][explainmedicine.com] 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] […] clinical features of the disease. [7] Congenital Muscular Dystrophy Congenital muscular dystrophies are a group of disorders genetic neuromuscular disorders that has the onset[explainmedicine.com]

  • X-Linked Scapuloperoneal Myopathy

    There are 6 clinical forms of NM ranging from the severe neonatal form, which presents at birth with severe hypotonia and may be fatal in infancy to the adult-onset variant[neuropathology-web.org] Signs: there is ptosis, facial weakness, atrophy of the sternocieidomastoid muscles, cataracts, and decreased intelligence.[academic.sun.ac.za] […] spinal muscular atrophy Distal hereditary motor neuronopathy type 8 (DHMN8) 600175 TRPV4 12q24.11 Autosomal dominant Affects primarily distal muscles of lower limbs, non-progressive[en.wikipedia.org]

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