Ataxia, and Macular degeneration

Diseases related with Ataxia and Macular degeneration

In the following list you will find some of the most common rare diseases related to Ataxia and Macular degeneration that can help you solving undiagnosed cases.


Top matches:

Low match SPINOCEREBELLAR ATAXIA 7; SCA7


Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 7; SCA7 Is also known as opca iii|opca with macular degeneration and external ophthalmoplegia|adca, type ii|olivopontocerebellar atrophy iii|opca3|opca with retinal degeneration|autosomal dominant cerebellar ataxia, type ii

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 7; SCA7

Low match SPINOCEREBELLAR ATAXIA TYPE 34


Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

SPINOCEREBELLAR ATAXIA TYPE 34 Is also known as erythrokeratodermia with ataxia|sca34|spinocerebellar ataxia and erythrokeratodermia

Related symptoms:

  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 34

Low match ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA


Autosomal recessive spinocerebellar ataxia-10 is an autosomal recessive neurodegenerative disorder with onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging (summary by Vermeer et al., 2010). Some patients have low levels of coenzyme Q10 (CoQ10) in muscle and may show some clinical improvement with CoQ10 treatment (Balreira et al., 2014).

ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA Is also known as scar10|autosomal recessive spinocerebellar ataxia type 10

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA

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Other less relevant matches:

Low match SPINOCEREBELLAR ATAXIA TYPE 7


Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

SPINOCEREBELLAR ATAXIA TYPE 7 Is also known as ataxia with pigmentary retinopathy|sca7|cerebellar syndrome-pigmentary maculopathy syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 7

Low match X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5


X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5 Is also known as cmt5x|cmtx5|optic atrophy, polyneuropathy, and deafness|rosenberg-chutorian syndrome|charcot-marie-tooth neuropathy, x-linked recessive, 5

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5

Low match CLN1 DISEASE


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).Zeman and Dyken (1969) referred to these conditions as the 'neuronal ceroid lipofuscinoses.' Goebel (1995) provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children.Mole et al. (2005) provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses. Genetic Heterogeneity of Neuronal Ceroid LipofuscinosisSee also CLN2 (OMIM ), caused by mutation in the TPP1 gene (OMIM ) on chromosome 11p15; CLN3 (OMIM ), caused by mutation in the CLN3 gene (OMIM ) on 16p12; CLN4A (OMIM ), caused by mutation in the CLN6 gene (OMIM ) on 15q21; CLN4B (OMIM ), caused by mutation in the DNAJC5 gene (OMIM ) on 20q13; CLN5 (OMIM ), caused by mutation in the CLN5 gene (OMIM ) on 13q; CLN6 (OMIM ), caused by mutation in the CLN6 gene (OMIM ) on 15q21; CLN7 (OMIM ), caused by mutation in the MFSD8 gene (OMIM ) on 4q28; CLN8 (OMIM ) and the Northern epilepsy variant of CLN8 (OMIM ), caused by mutation in the CLN8 gene (OMIM ) on 8pter; CLN10 (OMIM ), caused by mutation in the CTSD gene (OMIM ) on 11p15; CLN11 (OMIM ), caused by mutation in the GRN gene (OMIM ) on 17q; CLN13 (OMIM ), caused by mutation in the CTSF gene (OMIM ) on 11q13; and CLN14 (OMIM ), caused by mutation in the KCTD7 gene (OMIM ) on 7q11.CLN9 (OMIM ) has not been molecularly characterized.A disorder that was formerly designated neuronal ceroid lipofuscinosis-12 (CLN12) is now considered to be a variable form of Kufor-Rakeb syndrome (KRS ).

CLN1 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 1, variable age at onset

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLN1 DISEASE

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 15


Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 15 Is also known as spg15|spastic paraplegia and retinal degeneration|kjellin syndrome|hereditary spastic paraparesis type 15|spastic paraplegia-retinal degeneration syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 15

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 11


Hereditary spastic paraplegia (SPG or HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity.For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 11 Is also known as spastic paraplegia-intellectual disability-thin corpus callosum syndrome|nakamura-osame syndrome|spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum|spastic paraplegia, autosomal recessive, complicated, with thin corpu

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 11

Low match TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4


Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder (summary by Faghri et al., 2008).Sabinas brittle hair syndrome (OMIM ) is another form of nonphotosensitive TTD.For a discussion of genetic heterogeneity of trichothiodystrophy, see {601675}.

TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4 Is also known as trichothiodystrophy-neurocutaneous syndrome|pollitt syndrome|abhs|trichothiodystrophy, nonphotosensitive 1|bids syndrome|ttdn1|amish brittle hair brain syndrome|hair-brain syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4

Low match KNOBLOCH SYNDROME


Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Macular degeneration

Symptoms // Phenotype % cases
Nystagmus Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Macular degeneration. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Mental deterioration

Uncommon Symptoms - Between 30% and 50% cases


Visual loss Generalized hypotonia Intellectual disability Babinski sign Seizures Spasticity Blindness Retinal degeneration Cerebral atrophy Muscle weakness Peripheral axonal neuropathy Optic atrophy Progressive visual loss Pes cavus Gait disturbance Cataract Reduced visual acuity Tremor Paraplegia Dysmetria Distal amyotrophy Lower limb muscle weakness Polyneuropathy Peripheral neuropathy Sensory impairment Dysphagia Dementia Motor delay Cognitive impairment Visual impairment Saccadic smooth pursuit Failure to thrive Abnormal pyramidal sign Progressive cerebellar ataxia Spastic paraplegia Ophthalmoplegia

Rare Symptoms - Less than 30% cases


Leg muscle stiffness Horizontal nystagmus Broad-based gait Psychosis Retinal detachment Rod-cone dystrophy Ankle clonus Microcephaly Paresthesia Lower limb hyperreflexia Upper limb spasticity Spastic gait Lower limb spasticity Specific learning disability Urinary incontinence Abnormality of the cerebral white matter Hypoplasia of the corpus callosum Ventriculomegaly Sensory neuropathy Agenesis of corpus callosum Cerebral cortical atrophy Urinary urgency Epicanthus Paraparesis Sensorimotor neuropathy Retrognathia Skeletal muscle atrophy Urinary bladder sphincter dysfunction Abnormality of extrapyramidal motor function Orofacial dyskinesia Strabismus Supranuclear ophthalmoplegia Intention tremor Pigmentary retinopathy Gait ataxia Ophthalmoparesis Limb ataxia Fasciculations Slow saccadic eye movements Dysdiadochokinesis Areflexia Ptosis Progressive spastic paraplegia Gaze-evoked nystagmus Decreased number of peripheral myelinated nerve fibers Axonal loss Axonal degeneration Impaired vibration sensation in the lower limbs Abnormality of the periventricular white matter Overweight Corpus callosum atrophy Abnormality of the hair Motor polyneuropathy Degeneration of the lateral corticospinal tracts Progressive spastic paraparesis Macular hypoplasia CNS hypomyelination Tip-toe gait Thenar muscle atrophy Knee clonus Demyelinating sensory neuropathy Distal peripheral sensory neuropathy Temporal cortical atrophy Short stature Oral-pharyngeal dysphagia Paralysis Aplasia/Hypoplasia of the corpus callosum Abnormal vitreous humor morphology Upper limb muscle weakness Demyelinating peripheral neuropathy Bifid ureter Pseudobulbar paralysis Occipital meningocele Peripapillary atrophy Exudative retinal detachment Mood swings Functional abnormality of the bladder Retinal flecks Deep cerebral white matter hyperdensities Cerebellar malformation Phthisis bulbi Reduced tendon reflexes Yellow/white lesions of the retina Pain Delayed speech and language development Lymphangioma Dilatation Obesity Band keratopathy Lens luxation Total anomalous pulmonary venous return Involuntary movements Muscle stiffness Spastic paraparesis Growth delay Hypogonadism Ventricular septal defect Glaucoma Absent septum pellucidum Abnormal facial shape Chorioretinal atrophy Depressed nasal bridge Hand tremor Hydrocephalus Midface retrusion Cortical dysplasia Patent ductus arteriosus Dextrocardia Alopecia Ectopia lentis Nyctalopia Occipital encephalocele Leukemia Congenital cataract Joint hyperflexibility Pyloric stenosis Polymicrogyria Bulbous nose Vesicoureteral reflux High myopia Corneal dystrophy Narrow face Thin skin Encephalocele Tiger tail banding Concave nail Anteverted nares Small nail Short nose Microphthalmia Pachygyria Aplasia cutis congenita of scalp Macrotia Anomalous pulmonary venous return Sparse hair Large forehead Ichthyosis Microcornea Calvarial skull defect Vitreoretinopathy Hypergonadotropic hypogonadism Trichorrhexis nodosa Meningocele Sparse eyelashes Severe muscular hypotonia Brittle hair Decreased fertility Partial agenesis of the corpus callosum Keratoconjunctivitis sicca Woolly hair Corneal neovascularization Hypoplasia of teeth Acute lymphoblastic leukemia Aplasia cutis congenita Myopia Parkinsonism Frontotemporal dementia Dysmetric saccades Impaired smooth pursuit Supranuclear gaze palsy Fatigue Intellectual disability, mild Intellectual disability, moderate Generalized-onset seizure Diplopia Truncal ataxia EMG abnormality Slurred speech Brisk reflexes Progressive gait ataxia Hypermetric saccades Orthostatic hypotension Downbeat nystagmus Abnormal enzyme/coenzyme activity Tortuosity of conjunctival vessels Feeding difficulties Congestive heart failure Photophobia Neonatal hypotonia Cone/cone-rod dystrophy Restless legs Hemeralopia Abnormal fundus morphology Hearing impairment Abnormality of the musculature Macule Sensorineural hearing impairment Olivopontocerebellar atrophy Retinopathy Dyskinesia Chorea Neuronal loss in central nervous system External ophthalmoplegia Schizophrenia Incoordination Blurred vision Macular dystrophy Bipolar affective disorder Head tremor Spinocerebellar tract degeneration Limb tremor Urticaria Spinocerebellar atrophy Hyporeflexia Constipation Hyperkeratosis Erythema Neurological speech impairment Papule Facial asymmetry Abnormality of movement Dry skin Abnormality of the skin Hypotension Hypohidrosis Scoliosis Kyphosis Progressive spasticity Motor deterioration Nevus Brain atrophy Postnatal microcephaly Hallucinations Progressive microcephaly Global brain atrophy Muscle fibrillation Peripheral visual field loss Loss of speech Progressive encephalopathy Visual hallucinations Undetectable electroretinogram Decreased light- and dark-adapted electroretinogram amplitude Neurodegeneration Psychomotor deterioration Vacuolated lymphocytes Intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Behavioral abnormality Diabetes mellitus Abnormality of eye movement Abnormal cerebellum morphology Clonus Impaired vibratory sensation Bowel incontinence Generalized amyotrophy Sleep disturbance Irritability Elevated serum creatine phosphokinase Onion bulb formation Pallor Distal muscle weakness Falls Distal sensory impairment Optic disc pallor Bilateral sensorineural hearing impairment Frequent falls Progressive hearing impairment Language impairment Skeletal muscle hypertrophy Mildly elevated creatine phosphokinase Macular atrophy Impaired pain sensation EEG abnormality Optic neuropathy Congenital nystagmus Excessive daytime somnolence Areflexia of lower limbs Kinetic tremor Abnormal nerve conduction velocity Segmental peripheral demyelination/remyelination Muscular hypotonia Flexion contracture Abnormality of metabolism/homeostasis Depressivity Encephalopathy Myoclonus Cephalocele



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