Create issue ticket

2,487 Possible Causes for Delayed Acquisition of Motor Skills, Hypertonicity of the Lower Limbs, Sensation Normal

  • Autosomal Recessive Spastic Paraplegia Type 56

    The lower limb spasticity is the prominent finding on examination, particularly in the hamstrings, quadriceps, and ankles.[jnnp.bmj.com] Weakness: Some patients Distal Hands & Feet Fasciculations Sensation: Normal or Reduced (Panmodal; Posterior column) Bladder: Often normal Progression Over few years or Slow[neuromuscular.wustl.edu] There was a mild impairment of vibration sense, but proprioception and superficial sensation were normal.[journals.plos.org]

  • Autosomal Recessive Spastic Paraplegia Type 20

    […] is normal • Moderate CPK • AUTOSOMAL RECESIVE SMN1 gene deletions on Chr. 5 (SMN1 is spliced without Exon 7) SMN2 is usually spliced out but when it is there it can help[quizlet.com] limb spasticity, pyramidal weakness, hyperreflexia and hypertonic bladder involvement.[medicbind.com] The lower limb spasticity is the prominent finding on examination, particularly in the hamstrings, quadriceps, and ankles.[jnnp.bmj.com]

  • Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

    limbs, hypertonic urinary bladder, and impaired vibration sense.[clinicalgate.com] DSMA4 is characterized by childhood onset, generalized muscle weakness and atrophy with denervation and normal sensation. Bulbar symptoms and pyramidal signs are absent.[uniprot.org] Clinically, AMAN is part of the GBS spectrum but distinguished by normal sensation and nerve conduction studies characterised by low distal motor evoked amplitudes, normal[jnnp.bmj.com]

    Missing: Delayed Acquisition of Motor Skills
  • Déjerine-Sottas Disease

    ; tactile sensation remains normal.[medical-dictionary.thefreedictionary.com] acquisition of motor skills Mild loss of hearing Limitation in eye movements Reduced muscle tone This condition can be diagnosed from the symptoms as well as your child’s[kidbones.net] Sensation 484 Case 77 A Woman with Droopy Eyelids and Difficulty Swallowing 493 Case 78 A Man with Facial and Shoulder Muscle Weakness 497 Case 79 A Boy Born Floppy with[books.google.com]

    Missing: Hypertonicity of the Lower Limbs
  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    In most SPG4 patients CMCT was normal both to arms (mean 5.1 1.5 ms) and legs (14.1 3.9 ms).[ojrd.biomedcentral.com] Nystagmus, limb ataxia, gait ataxia, impaired pinprick sensation, impaired joint position sense, and clinical signs for spasticity of the arms were significantly rarer in[ojrd.biomedcentral.com]

    Missing: Hypertonicity of the Lower Limbs
  • Congenital Muscular Dystrophy due to LMNA Mutation

    Since delay of motor skill acquisition may be a presenting symptom of CMD, onset of manifestations before age two years may be a reasonable diagnostic criterion, although[invitae.com] Superficial and discriminative sensations were nearly normal whereas proprioceptive sensation was mildly impaired (lack of position sense at both toes) and Romberg’s sign[jnnp.bmj.com] And while Jill was growing in height like a normal girl, the fat on her arms and legs was vanishing.[propublica.org]

    Missing: Hypertonicity of the Lower Limbs
  • Congenital Muscular Dystrophy Type 1C

    Tactile, pinprick and vibration sensations were normal.[spandidos-publications.com] Since delay of motor skill acquisition may be a presenting symptom of CMD, onset of manifestations before age two years may be a reasonable diagnostic criterion.[ncbi.nlm.nih.gov] The cranial nerves were normal and the patient had no difficulties on sensory examination and coordination. Deep tendon reflexes and Babinski’s sign were negative.[spandidos-publications.com]

    Missing: Hypertonicity of the Lower Limbs
  • Hereditary Areflexic Dystasia

    Sensory symptoms and signs Sensation may be normal until adulthood.[emedicine.medscape.com] […] to touch may be noted Rarely, the progression of the signs and symptoms of Roussy-Lévy Syndrome may be slightly faster than normally expected.[dovemed.com] At times, sensation is severely impaired. Sensory changes dominate in HSN, which are not a subject of this article.[emedicine.medscape.com]

    Missing: Hypertonicity of the Lower Limbs
  • Spinocerebellar Ataxia Type 13

    The normal repeat length is 13-41 whereas repeat lengths causing SCA3 are greater than 56.[orpha.net] A likely overlooked but common feature is impairment of temperature sensation involving the entire body.[orpha.net]

    Missing: Hypertonicity of the Lower Limbs
  • Central Core Disease

    Sensation 484 Case 77 A Woman with Droopy Eyelids and Difficulty Swallowing 493 Case 78 A Man with Facial and Shoulder Muscle Weakness 497 Case 79 A Boy Born Floppy with[books.google.com] Sensation for all modalities was normal. Power in the neck flexors, shoulder girdle muscles, and triceps was reduced (MRC 4/5).[doi.org] 472 Case 75 A Woman with Proximal Muscle Weakness Calf Hypertrophy Heel Contractures and Elevated Serum Creatine Kinase 480 Case 76 A Young Man with Distal Leg Wasting and Normal[books.google.com]

    Missing: Hypertonicity of the Lower Limbs