Feeding difficulties, and Progressive cerebellar ataxia

Diseases related with Feeding difficulties and Progressive cerebellar ataxia

In the following list you will find some of the most common rare diseases related to Feeding difficulties and Progressive cerebellar ataxia that can help you solving undiagnosed cases.

Top matches:

Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two.

INFANTILE NEUROAXONAL DYSTROPHY Is also known as inad|neuroaxonal dystrophy, atypical|seitelberger disease|neurodegeneration with brain iron accumulation, pla2g6-related|inad1|phospholipase a2-associated neurodegeneration|plan

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE NEUROAXONAL DYSTROPHY

Hypomyelinating leukodystrophy-15 is an autosomal recessive neurodegenerative disorder characterized by onset of motor and cognitive impairment in the first or second decade of life. Features include dystonia, ataxia, spasticity, and dysphagia. Most patients develop severe optic atrophy, and some have hearing loss. Brain imaging shows hypomyelinating leukodystrophy with thin corpus callosum. The severity of the disorder is variable (summary by Mendes et al., 2018)For a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 15; HLD15

Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Is also known as xp6|xp, group f|xeroderma pigmentosum vi

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF

Other less relevant matches:

Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).

MULTIPLE SYSTEM ATROPHY, PARKINSONIAN TYPE Is also known as msa-p|msa, parkinsonian type

Related symptoms:

  • Dysarthria
  • Depressivity
  • Constipation
  • Gait ataxia
  • Rigidity


SOURCES: ORPHANET MENDELIAN

More info about MULTIPLE SYSTEM ATROPHY, PARKINSONIAN TYPE

Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy.

SPINOCEREBELLAR ATAXIA TYPE 25 Is also known as sca25

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus
  • Visual impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 25

Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA; see this term) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).

MULTIPLE SYSTEM ATROPHY, CEREBELLAR TYPE Is also known as sporadic olivopontocerebellar atrophy type 1|msa, cerebellar type|sporadic opca type 1|msa-c

Related symptoms:

  • Dysarthria
  • Depressivity
  • Constipation
  • Gait ataxia
  • Rigidity


SOURCES: ORPHANET MENDELIAN

More info about MULTIPLE SYSTEM ATROPHY, CEREBELLAR TYPE

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

Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia (Jen et al., 2007). Genetic Heterogeneity of Episodic AtaxiaEpisodic ataxia is a genetically heterogeneous disorder. See also EA2 (OMIM ), caused by mutation in the CACNA1A gene (OMIM ) on chromosome 19p13; EA3 (OMIM ), which maps to chromosome 1q42; EA4 (OMIM ); EA5, caused by mutation in the CACNB4 gene (OMIM ) on chromosome 2q22-q23; EA6 (OMIM ), caused by mutation in the SLC1A3 gene (OMIM ) on chromosome 5p13; EA7 (OMIM ), which maps to chromosome 19q13; and EA8 (OMIM ), which maps to chromosome 1p36-p34.Isolated myokymia-2 (see {121200}) is associated with mutation in the KCNQ2 gene (OMIM ).

EPISODIC ATAXIA, TYPE 1; EA1 Is also known as ataxia, episodic, with myokymia|paroxysmal ataxia with neuromyotonia, hereditary|eam|episodic ataxia with myokymia|aemk|aem|myokymia with periodic ataxia

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 1; EA1

Gerstmann-Straussler-Scheinker syndrome (GSSS) is a particular and rare form of human transmissible spongiform encephalopathy (TSE) due to a defective gene encoding the prion protein (PRNP gene) and marked by particular multicentric amyloid plaques in the brain.

GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME Is also known as gerstmann-straussler-scheinker disease|prion dementia|subacute spongiform encephalopathy, gerstmann-straussler type|encephalopathy, subacute spongiform, gerstmann-straussler type|amyloidosis, cerebral, with spongiform encephalopathy|cerebellar ataxia, pro

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME

Top 5 symptoms//phenotypes associated to Feeding difficulties and Progressive cerebellar ataxia

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases
Gait ataxia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Feeding difficulties and Progressive cerebellar ataxia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Abnormal pyramidal sign Babinski sign Spasticity Rigidity Brain atrophy Hearing impairment Strabismus Tremor Hyperreflexia Bradykinesia Dysphagia Global brain atrophy Depressivity Impaired smooth pursuit Anxiety Sensorineural hearing impairment Postural instability Peripheral neuropathy Postural tremor Parkinsonism Areflexia Hyporeflexia Constipation Limb ataxia Apathy Myoclonus Axial dystonia Optic atrophy Cerebral atrophy Mental deterioration Intention tremor Unsteady gait Developmental regression Abnormality of eye movement Dystonia Visual impairment Gliosis

Rare Symptoms - Less than 30% cases

Abnormal rapid eye movement sleep Female anorgasmia Autonomic erectile dysfunction Orthostatic syncope Camptocormia Slurred speech Autonomic bladder dysfunction Central sleep apnea Abnormal brain FDG positron emission tomography Incoordination Gait disturbance Muscle cramps Raynaud phenomenon Papule Resting tremor Orthostatic hypotension due to autonomic dysfunction Muscle weakness Hyperkinesis Vomiting Abnormality of the eye Muscular hypotonia of the trunk Limb muscle weakness Abnormality of movement Fasciculations Encephalopathy Facial myokymia Myopathy Muscle stiffness Blindness Supranuclear gaze palsy Coma Cyanosis Dysmetria Generalized hypotonia Gaze-evoked nystagmus Erythema Orofacial dyskinesia Hyperactivity Neurofibrillary tangles Lewy bodies Stridor Cognitive impairment Microcephaly Neurodegeneration Chorea Muscular hypotonia Visual loss Pneumonia Emotional lability Short stature Dysdiadochokinesis Global developmental delay Inability to walk Abnormal cerebellum morphology Frequent falls Dementia Renal insufficiency Intrauterine growth retardation Abnormal autonomic nervous system physiology Flexion contracture Anemia Growth delay Hypertonia Scoliosis Intellectual disability Athetosis Leukodystrophy Alzheimer disease Necrotizing encephalopathy Impaired distal tactile sensation Abnormal morphology of the cerebellar cortex Abolished vibration sense Facial tics Progressive macrocephaly Abnormal mitochondria in muscle tissue Broad-based gait Cardiogenic shock Dysphonia Congenital lactic acidosis Impaired pain sensation Diffuse cerebellar atrophy Decreased number of peripheral myelinated nerve fibers Pes cavus Reduced visual acuity Distal sensory impairment Sensory neuropathy Perseveration Urinary urgency Exercise-induced lactic acidemia Acute necrotizing encephalopathy Episodic abdominal pain EMG: neuropathic changes Tics Areflexia of lower limbs Spastic dysarthria Decreased number of large peripheral myelinated nerve fibers Downbeat nystagmus Insomnia Neuromuscular dysphagia Hip dysplasia Diarrhea Cerebral cortical atrophy Weight loss Difficulty walking Aggressive behavior Paralysis Poor speech Lower limb muscle weakness Confusion Paresthesia Tetraplegia Memory impairment Abnormality of extrapyramidal motor function Tetany Apraxia Spastic tetraplegia Psychosis Dysesthesia Clumsiness Involuntary movements Chronic diarrhea Hallucinations Truncal ataxia Mutism Hypomimic face Personality changes Akinesia Myokymia Episodic ataxia Hyperkeratosis Supranuclear ophthalmoplegia Neurological speech impairment Ophthalmoplegia Facial asymmetry Dry skin Peripheral axonal neuropathy Abnormality of the skin Hypotension Hypohidrosis Macular degeneration Urticaria Macule Aphasia Abnormality of the musculature Pain Hypomagnesemia Headache Elevated serum creatine phosphokinase Vertigo Nausea Esotropia Choreoathetosis Spastic gait Cerebral palsy Macrovesicular hepatic steatosis Abnormality of the hand Blurred vision Muscle fibrillation Cerebellar vermis atrophy Orthostatic hypotension Optic disc pallor Infantile encephalopathy Hepatomegaly Freckling Tubular atrophy Verrucae Morphological abnormality of the central nervous system Defective DNA repair after ultraviolet radiation damage Cholangiocarcinoma Seborrheic keratosis Numerous pigmented freckles Failure to thrive Micrognathia Abnormal facial shape Ptosis Skeletal muscle atrophy Bone marrow hypocellularity Macrocephaly Fatigue Talipes equinovarus Respiratory insufficiency Respiratory distress Cardiomyopathy Edema Atrial septal defect Congestive heart failure Hernia Patent ductus arteriosus Agenesis of corpus callosum Respiratory failure Neoplasm of the skin Cafe-au-lait spot Kyphoscoliosis Hypermetropia Delayed speech and language development Falls Neuronal loss in central nervous system Tetraparesis Cachexia Impulsivity Toe walking Short attention span Talipes calcaneovalgus Aceruloplasminemia Motor delay Hypoplasia of the corpus callosum Severe short stature Progressive visual loss Decreased body weight Amblyopia Neoplasm Hypertension Photophobia Deeply set eye Proteinuria Abnormality of the nervous system Attention deficit hyperactivity disorder Astigmatism Delayed myelination Prominent nose Microdontia Cutaneous photosensitivity Acidosis Hypoglycemia Biventricular hypertrophy Renal tubular acidosis Horizontal nystagmus Exercise intolerance Pancreatitis Shock Leukoencephalopathy Ragged-red muscle fibers Oral-pharyngeal dysphagia Adrenal insufficiency Pericardial effusion Progressive spasticity Poor eye contact Weak cry Basal ganglia calcification Optic neuropathy Aspiration Progressive encephalopathy Mitochondrial myopathy Cardiorespiratory arrest Aspiration pneumonia Nemaline bodies Increased CSF lactate Wolff-Parkinson-White syndrome Corpus callosum atrophy Severe lactic acidosis Cerebral edema Acute pancreatitis Stiff neck Decreased activity of mitochondrial respiratory chain Cardiac arrest Wide anterior fontanel Proximal muscle weakness Lactic acidosis Myalgia Hypertrophic cardiomyopathy Apnea Feeding difficulties in infancy Irritability Pallor Abnormality of the liver Retinopathy Stroke Severe global developmental delay Lethargy Talipes Stage 5 chronic kidney disease Hepatic failure Left ventricular hypertrophy Dyskinesia Hepatic steatosis Metabolic acidosis Generalized myoclonic seizures Premature birth Migraine Increased serum lactate Febrile seizures Pigmentary retinopathy Congenital diaphragmatic hernia Cardiomegaly Coarctation of aorta Ventricular hypertrophy Cerebral amyloid angiopathy


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