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332 Possible Causes for Delayed Acquisition of Motor Skills, Diffuse Muscle Wasting, Mild Rib Sclerosis

  • Rigid Spine Syndrome

    […] skeletal muscle wasting Generalized muscle degeneration Muscle atrophy, generalized [ more ] 0003700 Generalized muscle weakness 0003324 High palate Elevated palate Increased[rarediseases.info.nih.gov] 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] 0010628 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Flexion contracture Flexed joint that cannot be straightened 0001371 Generalized amyotrophy Diffuse[rarediseases.info.nih.gov]

    Missing: Mild Rib Sclerosis
  • 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] delay and mild or moderate limb-girdle involvement during childhood.[invitae.com] […] variable within a spectrum and ranges from severe infantile onset hypotonia with feeding and respiratory complications and structural brain and eye abnormalities to moderate motor[invitae.com]

    Missing: Mild Rib Sclerosis
  • Autosomal Recessive Centronuclear Myopathy

    Centronuclear myopathy (CNM) is a rare hereditary congenital myopathy characterized by muscular hypotonia and abnormal centralization of nuclei in muscle fibers. The autosomal recessive (AR) form presents from birth to childhood, followed by a mild progression of muscle weakness. Despite recently identified genetic[…][ncbi.nlm.nih.gov]

    Missing: Mild Rib Sclerosis
  • Congenital Muscular Dystrophy Type Ullrich

    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] delay and mild or moderate limb-girdle involvement during childhood.[invitae.com] […] variable within a spectrum and ranges from severe infantile onset hypotonia with feeding and respiratory complications and structural brain and eye abnormalities to moderate motor[invitae.com]

    Missing: Mild Rib Sclerosis
  • Déjerine-Sottas Disease

    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] , muscular (diffuse) (general) (idiopathic) (primary) M62.50 ICD-10-CM Diagnosis Code M62.50 Muscle wasting and atrophy, not elsewhere classified, unspecified site 2016 2017[icd10data.com] […] in acquisition of motor skills in childhood occasionally, limitation of eye movements or other eye problems occasionally, mild hearing loss How does Dejerine-Sottas Disease[mda.org.au]

    Missing: Mild Rib Sclerosis
  • TK2-Related Myopathic Mitochondrial DNA Depletion Syndrome

    Name mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive FlyBase ID FBhh0000373 Disease Ontology Term Parent Disease This report describes mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), autosomal recessive; the human gene implicated in this disease is SLC25A4, which[…][flybase.org]

    Missing: Mild Rib Sclerosis
  • Muscular Dystrophy-Dystroglycanopathy Type C1

    […] of the voluntary muscles of the hip and shoulder areas.[pubs.sciepub.com] Diffusion weighted imaging sequence from cranial magnetic resonance imaging demonstrates diffuse bilateral cerebral restricted diffusion compatible with infarction 3.[pubs.sciepub.com] Discussion Limb Girdle Muscular Dystrophy (LGMD) is a rare progressive muscular dystrophy genetic disorder that is characterized by wasting and predominantly proximal weakness[pubs.sciepub.com]

    Missing: Mild Rib Sclerosis
  • Limb-Girdle Muscular Dystrophy Type 2Q

    […] of the voluntary muscles of the hip and shoulder areas.[pubs.sciepub.com] Diffusion weighted imaging sequence from cranial magnetic resonance imaging demonstrates diffuse bilateral cerebral restricted diffusion compatible with infarction 3.[pubs.sciepub.com] Discussion Limb Girdle Muscular Dystrophy (LGMD) is a rare progressive muscular dystrophy genetic disorder that is characterized by wasting and predominantly proximal weakness[pubs.sciepub.com]

    Missing: Mild Rib Sclerosis
  • Muscular Dystrophy-Dystroglycanopathy Type C2

    […] of the voluntary muscles of the hip and shoulder areas.[pubs.sciepub.com] Diffusion weighted imaging sequence from cranial magnetic resonance imaging demonstrates diffuse bilateral cerebral restricted diffusion compatible with infarction 3.[pubs.sciepub.com] Discussion Limb Girdle Muscular Dystrophy (LGMD) is a rare progressive muscular dystrophy genetic disorder that is characterized by wasting and predominantly proximal weakness[pubs.sciepub.com]

    Missing: Mild Rib Sclerosis
  • Hypomyelinating Leukodystrophy Type 5

    Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs.[genecards.org] It is clinically characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency.[genecards.org]

    Missing: Mild Rib Sclerosis