Optic atrophy, and Waddling gait

Diseases related with Optic atrophy and Waddling gait

In the following list you will find some of the most common rare diseases related to Optic atrophy and Waddling gait that can help you solving undiagnosed cases.


Top matches:

High match CAMURATI-ENGELMANN DISEASE


Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

CAMURATI-ENGELMANN DISEASE Is also known as diaphyseal dysplasia 1, progressive|engelmann disease|progressive diaphyseal dysplasia|dpd1|ced|pdd

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CAMURATI-ENGELMANN DISEASE

Medium match CATARACT-GLAUCOMA SYNDROME


Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Pain
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CATARACT-GLAUCOMA SYNDROME

Medium match SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME


Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.

SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME Is also known as smd-crd

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME

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Other less relevant matches:

Medium match RETINITIS PIGMENTOSA 3; RP3


X-linked retinitis pigmentosa (XLRP) is a severe form of inherited retinal degeneration that primarily affects the rod photoreceptors (Demirci et al., 2002). It typically causes an early-onset night blindness and loss of peripheral vision, often causing patients to become legally blind by the age of 30 to 40 years. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe RP (Jin et al., 2007). Mutation in the RPGR gene is believed to account for approximately 70% of XLRP (Vervoort et al., 2000).For a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.

RETINITIS PIGMENTOSA 3; RP3 Is also known as rp15|retinitis pigmentosa 15|cone-rod degeneration, x-linked|choroidoretinal degeneration with retinal reflex in heterozygous women

Related symptoms:

  • Intellectual disability
  • Visual impairment
  • Myopia
  • Optic atrophy
  • Blindness


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 3; RP3

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 57


Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 57 Is also known as spastic paraplegia due to partial tfg deficiency|spg57

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Optic atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 57

Medium match MEPAN SYNDROME


Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an autosomal recessive neurologic disorder characterized by onset of involuntary movements in the first decade of life. Optic atrophy develops around the same time or slightly later. Severity is variable, and some patients lose independent ambulation. Brain imaging shows abnormalities in the basal ganglia. Cognition appears to be unaffected (summary by Heimer et al., 2016).

MEPAN SYNDROME Is also known as childhood-onset generalized dystonia-optic atrophy syndrome|dystonia 29|dyt29|autosomal recessive childhood-onset dystonia, dyt29 type|dystonia 29, childhood-onset|mitochondrial enoyl coa reductase protein-associated neurodegeneration syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEPAN SYNDROME

Medium match AUTOSOMAL RECESSIVE SPASTIC ATAXIA-OPTIC ATROPHY-DYSARTHRIA SYNDROME


AUTOSOMAL RECESSIVE SPASTIC ATAXIA-OPTIC ATROPHY-DYSARTHRIA SYNDROME Is also known as spax4|autosomal recessive spastic ataxia type 4

Related symptoms:

  • Ataxia
  • Nystagmus
  • Delayed speech and language development
  • Motor delay
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC ATAXIA-OPTIC ATROPHY-DYSARTHRIA SYNDROME

Medium match AUTOSOMAL RECESSIVE OPTIC ATROPHY, OPA7 TYPE


A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy.

Related symptoms:

  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE OPTIC ATROPHY, OPA7 TYPE

Medium match SPINOCEREBELLAR ATAXIA 13; SCA13


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 13; SCA13

Medium match ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION


ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION Is also known as neurodegeneration with brain iron accumulation type 1, atypical form|pkan, atypical form|nbia1, atypical form

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION

Top 5 symptoms//phenotypes associated to Optic atrophy and Waddling gait

Symptoms // Phenotype % cases
Nystagmus Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Optic atrophy and Waddling gait. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Gait disturbance Hearing impairment Progressive visual loss Myoclonus Spasticity Intellectual disability Visual loss Motor delay

Rare Symptoms - Less than 30% cases


Myopia Pain Retinal atrophy Strabismus Peripheral visual field loss Headache Blindness Pallor Optic disc pallor Falls Constriction of peripheral visual field Peripheral neuropathy Babinski sign Cone/cone-rod dystrophy Emotional lability Limb ataxia Frequent falls Progressive cerebellar ataxia Chorea Generalized hypotonia Short stature Reduced visual acuity Abnormal facial shape Seizures Dysphagia Bone pain Increased intracranial pressure Hypertrophic cardiomyopathy Neurological speech impairment Difficulty walking Retinal dystrophy Abnormal pyramidal sign Scoliosis Proptosis Nyctalopia Clumsiness Hyperlordosis Muscular dystrophy Sensory impairment Sensorimotor neuropathy Difficulty climbing stairs Distal lower limb amyotrophy Motor polyneuropathy Abnormality of peripheral nerve conduction Inability to walk Metaphyseal cupping Abnormal myelination Spondylometaphyseal dysplasia Ovoid vertebral bodies Enlarged joints Optic nerve coloboma Macular atrophy Cone dysfunction syndrome Beaking of vertebral bodies Paraplegia Narrow greater sacrosciatic notches Difficulty standing Tibial torsion Cupped ribs Severe platyspondyly Hypoplastic inferior ilia Retinal thinning Iris hypopigmentation Intellectual disability, mild Limited elbow movement Rod-cone dystrophy Retinal degeneration Decreased hip abduction Abnormal retinal morphology Thoracic scoliosis Abnormality of macular pigmentation Large central visual field defect Spastic paraplegia Ectopia pupillae Hyporeflexia Abnormality of the Achilles tendon Tremor Gait ataxia Intellectual disability, moderate Dysmetria Abnormal cerebellum morphology Abnormality of extrapyramidal motor function Cerebral palsy Impaired vibratory sensation Morphological abnormality of the pyramidal tract Titubation Limb dysmetria Jerky ocular pursuit movements Cognitive impairment Depressivity Muscular hypotonia Rigidity Irritability Retinopathy Parkinsonism Psychosis Impulsivity Obsessive-compulsive behavior Limb dystonia Focal dystonia Upper motor neuron dysfunction Oromandibular dystonia Tongue atrophy Inertia Cerebellar atrophy Global developmental delay Dystonia Progressive gait ataxia Abnormality of the eye Abnormality of eye movement Dyskinesia Involuntary movements Craniofacial dystonia Delayed speech and language development High hypermetropia Mental deterioration Neurodegeneration Paraparesis Spastic paraparesis Delayed ability to walk Spastic ataxia Motor axonal neuropathy Lower limb hypertonia Movement abnormality of the tongue Upper limb hypertonia Sensorineural hearing impairment Cardiomyopathy Peripheral axonal neuropathy Exotropia Horizontal nystagmus Abnormality of mitochondrial metabolism Scotoma Optic neuropathy Central scotoma Dyschromatopsia Disproportionate short stature Limb undergrowth Short finger Metaphyseal dysplasia Increased bone mineral density Bone marrow hypocellularity Vasculitis Coxa valga Leukopenia Tinnitus Easy fatigability Abnormality of pelvic girdle bone morphology Cachexia Hyperostosis Reduced subcutaneous adipose tissue Elevated erythrocyte sedimentation rate Abnormality of the vertebral column Anorexia Aplasia/Hypoplasia of the radius Poor appetite Abnormality of the skull Gangrene Raynaud phenomenon Abnormality of the ulna Facial paralysis Slender build Abnormality of tibia morphology Abnormality of femur morphology Extramedullary hematopoiesis Otosclerosis Abnormality of the humerus Diplopia Lumbar hyperlordosis Abnormal diaphysis morphology Mandibular prognathia Muscle weakness Anemia Flexion contracture Hepatomegaly Skeletal muscle atrophy Fatigue Frontal bossing Splenomegaly Kyphosis Hypogonadism Hyperactivity Glaucoma Skeletal dysplasia Limitation of joint mobility Pes planus Hepatosplenomegaly Proximal muscle weakness Abnormality of the nervous system Facial palsy Feeding difficulties in infancy Paralysis Carious teeth Delayed puberty Genu valgum Vertigo Sensory neuropathy Delayed eruption of teeth Urinary retention Lower limb pain Tibial bowing Astigmatism Premature loss of primary teeth Pulmonary insufficiency Growth delay Failure to thrive Brachydactyly Microphthalmia Severe short stature Photophobia Postnatal growth retardation Joint stiffness Coloboma Platyspondyly Short palm Chondrocalcinosis Dental malocclusion Short metacarpal Abnormality of the ribs Recurrent otitis media Bowing of the long bones Rhizomelia Coxa vara Metaphyseal widening Metaphyseal irregularity Bowing of the legs Flared metaphysis Abnormality of color vision Femoral bowing Chronic pain Papilledema Sclerosis of skull base Hypertension Cranial hyperostosis Limb pain Abnormality of the radius Cranial nerve compression Diaphyseal sclerosis Diaphyseal dysplasia Optic nerve compression Craniofacial osteosclerosis Cortical sclerosis Cortical thickening of long bone diaphyses Abnormal subcutaneous fat tissue distribution Elevated aldolase level Feeding difficulties Fever Premature loss of teeth Respiratory distress Vomiting Abnormality of the dentition Constipation Pneumonia Brachycephaly Respiratory failure Arthralgia Arthritis Craniosynostosis Hypercalcemia Rickets Osteomalacia Violent behavior



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