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10 Possible Causes for Loss of Motor Milestones, Persistent Notochordal Canal

  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] syndrome SLC35A1-CDG SLC35A2-CDG SSR4-CDG STT3A-CDG STT3B-CDG SURF1-related Charcot-Marie-Tooth disease type 4 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent[se-atlas.de]

  • Distal Hereditary Motor Neuropathy Type 1

    Delayed gross and fine motor milestones, awkward/slow running, frequent falls, recurrent ankle injuries, progressive fatigue/poor endurance, distal extremity pain/cramps.[now.aapmr.org] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Early Onset: Severe forms may have infant hypotonia with delayed motor milestones, toe walking and even arthrogryposis; most present before age 20, with clumsiness and abnormal[now.aapmr.org]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2R

    In such cases, affected individuals have severe muscle weakness of both the arms and legs, loss of muscle tone (hypotonia), and delays in attaining motor milestones.[rarediseases.org] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] syndrome SLC35A1-CDG SLC35A2-CDG SSR4-CDG STT3A-CDG STT3B-CDG SURF1-related Charcot-Marie-Tooth disease type 4 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent[se-atlas.de]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2J

    In such cases, affected individuals have severe muscle weakness of both the arms and legs, loss of muscle tone (hypotonia), and delays in attaining motor milestones.[rarediseases.org] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] syndrome SLC35A1-CDG SLC35A2-CDG SSR4-CDG STT3A-CDG STT3B-CDG SURF1-related Charcot-Marie-Tooth disease type 4 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent[se-atlas.de]

  • Nemaline Myopathy

    Intermediate NM (20% of patients; see this term) is characterized by slow achievement of gross motor milestones, and loss of ambulation and/or independent respiration by age[orpha.net] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] syndrome SLC35A1-CDG SLC35A2-CDG SSR4-CDG STT3A-CDG STT3B-CDG SURF1-related Charcot-Marie-Tooth disease type 4 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent[se-atlas.de]

  • Marfanoid Habitus with Situs Inversus

    […] of motor milestones, hypotonia, feeding difficulty, cherry red macula NP: sphingomyelinase deficiency, Hepatosplenomegaly, Areflexia TS: beta hexosamindase A deficiency No[flashcardbook.com] notochordal canal and abnormal ossification of the vertebral bodies.[medworm.com] Her initial motor and mental developmental milestones had been normal.[japi.org]

  • Familial Infantile Myasthenia

    […] of motor milestones, loss of vision Spinocerebellar Ataxia 8 -- common initial symptoms are scanning dysarthria with a characteristic drawn-out slowness of speech and gait[en.wikibooks.org] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] repeats are symptomatic 1000 repeats often seen in congenital type Cerebellar Ataxia most types have onset in adulthood Spinocerebellar Ataxia 7 -- failure to thrive and loss[en.wikibooks.org]

  • Hanhart Dwarfism

    Subsequently, the child has progressive loss of intellectual and motor milestones with visual inattentiveness.[entokey.com] notochordal canal syndrome (disorder) {774150004, SNOMED-CT } Scalp defect postaxial polydactyly syndrome (disorder) {726629006, SNOMED-CT } Sclerosing dysplasia of bone,[phinvads.cdc.gov] Saposins A and D accumulate in lysosomes. 203 The disease begins with a loss of intellectual and motor milestones in the first year of life.[entokey.com]

  • Congenital Cataract-Hearing Loss-Severe Developmental Delay Syndrome

    Speech delay Delay in motor milestones Cerebral palsy Generalized delay in developmental milestones Mental retardation Maternal illness during pregnancy Intrauterine infection[aafp.org] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] (e.g., rubella, toxoplasmosis, cytomegalovirus inclusion disease) Hearing loss, mental retardation Maternal phenylketonuria Mental retardation Maternal hypothyroidism Mental[aafp.org]

  • Centronuclear Myopathy Type 4

    milestones, onset in adolescence and a slowly progressive course with loss of independent ambulation uncommon before the 6th decade [ 76 – 78 ].[ojrd.biomedcentral.com] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Dominant DNM2 mutations affecting the dynamin 2 middle domain reported to date appear to be associated with a mild clinical phenotype characterised by normal early motor developmental[ojrd.biomedcentral.com]

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