Ataxia, and Waddling gait

Diseases related with Ataxia and Waddling gait

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


Top matches:

Medium match CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG


CMTDIG is an autosomal dominant neurologic disorder with a highly variable phenotype. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment. More severely affected individuals may have pes cavus and claw hands and become wheelchair-bound, whereas other affected individuals have later onset with a milder disease course. Electrophysiologic studies tend to show median motor nerve conduction velocities (NCV) in the 'intermediate' range, between 25 and 45 m/s (summary by Berciano et al., 2017).In a review of intermediate CMT, Berciano et al. (2017) noted that advanced axonal degeneration may induce secondary demyelinating changes resulting in decreased NCV and attenuated compound muscle action potential (CMAP) in median nerve conduction studies. They thus suggested that testing the upper arm, axilla to elbow, may provide more accurate assessment of NCV and CMAP and reveal an intermediate phenotype (review by Berciano et al., 2017).For a discussion of genetic heterogeneity of CMTDI, see {606482}.

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG

Medium match HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY


Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.

HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY Is also known as methylenetetrahydrofolate reductase deficiency|mthfr deficiency|methylene tetrahydrofolate reductase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY

Medium match SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME


Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.

SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME Is also known as spastic paraplegia-psychomotor retardation-seizures syndrome|spprs syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME

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Other less relevant matches:

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23


Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23 Is also known as spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|lison syndrome|spg23|spastic paraparesis, vitiligo, premature graying, characteristic facies|spastic paraplegia with pigmentary abnormalities

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Ataxia
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23

Medium match PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S


Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

Medium match NEURAMINIDASE DEFICIENCY


Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (OMIM ) is a form of 'free' sialic acid disease. ClassificationLowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.

NEURAMINIDASE DEFICIENCY Is also known as neug deficiency|neuraminidase 1 deficiency|glycoprotein neuraminidase deficiency|neu1 deficiency|mucolipidosis i|neu deficiency|lipomucopolysaccharidosis|sialidase deficiency|ml i|sialidosis, type ii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURAMINIDASE DEFICIENCY

Medium 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 MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Medium match CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC


Axonal Charcot-Marie-Tooth disease type 2CC is an autosomal dominant peripheral neuropathy that predominantly affects the lower limbs, resulting in muscle weakness and atrophy and gait impairment. Other features include distal sensory impairment and less severe involvement of the upper limbs. The age at onset and severity are variable (summary by Rebelo et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (OMIM ).

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC Is also known as charcot-marie-tooth neuropathy, type 2cc

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Gait disturbance
  • Myopathy
  • Hyporeflexia


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC

Top 5 symptoms//phenotypes associated to Ataxia and Waddling gait

Symptoms // Phenotype % cases
Gait disturbance Common - Between 50% and 80% cases
Proximal muscle weakness Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Difficulty walking

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Common Symptoms - More than 50% cases


Spasticity

Uncommon Symptoms - Between 30% and 50% cases


Peripheral neuropathy Global developmental delay Scoliosis Hepatomegaly Dysarthria Myopathy Motor delay Hyporeflexia Elevated serum creatine phosphokinase Abnormality of the nervous system Microcephaly Short stature Hearing impairment Sensorineural hearing impairment Easy fatigability Failure to thrive Strabismus Cerebral atrophy Feeding difficulties Hyperlordosis Fatigue Tremor Cataract Muscular hypotonia Pain Pes cavus Unsteady gait Babinski sign Limb muscle weakness Areflexia Lower limb muscle weakness Inability to walk Kyphosis Skeletal muscle atrophy Sensory impairment Nystagmus Flexion contracture

Rare Symptoms - Less than 30% cases


Lumbar hyperlordosis Poor head control Fatigable weakness Stridor Kyphoscoliosis Pectus carinatum Diplopia Tetraparesis Generalized muscle weakness Hyperreflexia Lower limb spasticity Dysphagia Progressive spastic paraplegia Cerebral white matter atrophy Muscle fiber atrophy Exophoria Scapular winging Respiratory arrest Dyspnea Ragged-red muscle fibers Anorexia Hypertrophic cardiomyopathy Headache Abnormal facial shape Slurred speech Cardiomegaly Falls Hepatosplenomegaly Skeletal dysplasia Splenomegaly Elevated hepatic transaminase Cardiomyopathy Progressive proximal muscle weakness Generalized tonic-clonic seizures Muscle cramps Hepatic steatosis Abnormality of movement Carious teeth Congenital cataract Muscular dystrophy Abnormality of the liver Myalgia Paraplegia Restrictive ventilatory defect Spastic paraplegia Distal muscle weakness Axonal degeneration Hypoplasia of the corpus callosum Gowers sign Sensorimotor neuropathy Cerebellar atrophy Behavioral abnormality Encephalopathy Poor suck Hyperactivity Attention deficit hyperactivity disorder Myopia Macrocephaly Progressive cerebellar ataxia Lethargy Delayed speech and language development Abnormality of the foot Coma Paraparesis Dystonia Hip dislocation Distal sensory impairment Abnormal subcutaneous fat tissue distribution Cortical thickening of long bone diaphyses Cortical sclerosis Craniofacial osteosclerosis Optic nerve compression Arrhythmia Diaphyseal dysplasia Jaundice Cranial nerve compression Abnormality of the radius Limb pain Cranial hyperostosis Hypoglycemia Telecanthus Diaphyseal sclerosis Depressed nasal bridge Elevated aldolase level Depressivity Arthralgia Fever High forehead Respiratory insufficiency Acidosis Respiratory distress Sclerosis of skull base Weight loss Gait ataxia Vomiting Respiratory failure Diarrhea Congestive heart failure Edema Otosclerosis Lower limb pain Vertigo Coxa valga Vasculitis Bone marrow hypocellularity Increased bone mineral density Bone pain Limitation of joint mobility Delayed eruption of teeth Sensory neuropathy Genu valgum Increased intracranial pressure Delayed puberty Neurological speech impairment Paralysis Feeding difficulties in infancy Facial palsy Pes planus Mandibular prognathia Proptosis Glaucoma Leukopenia Tinnitus Abnormal diaphysis morphology Raynaud phenomenon Urinary retention Abnormality of the humerus Respiratory tract infection Extramedullary hematopoiesis Abnormality of femur morphology Abnormality of tibia morphology Slender build Facial paralysis Abnormality of the ulna Gangrene Abnormality of pelvic girdle bone morphology Abnormality of the skull Poor appetite Aplasia/Hypoplasia of the radius Abnormality of the vertebral column Metaphyseal dysplasia Elevated erythrocyte sedimentation rate Reduced subcutaneous adipose tissue Hyperostosis Cachexia Abnormality of the pinna Nausea Dilated cardiomyopathy Impaired mastication Increased muscle lipid content Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Cataplexy Renal cortical cysts Limb tremor Nonketotic hypoglycemia Elevated plasma acylcarnitine levels Hypoglycemic coma Personality disorder Progressive spastic quadriplegia Glutaric aciduria Oliguria Generalized aminoaciduria Acute pancreatitis Loss of ability to walk Abnormal corpus callosum morphology Ketotic hypoglycemia Reduced protein C activity Episodic vomiting Frequent falls Lower limb amyotrophy Muscle fiber splitting Upper limb muscle weakness EMG: neuropathic changes Rimmed vacuoles Increased variability in muscle fiber diameter Sensory axonal neuropathy Impaired vibratory sensation Pyloric stenosis Peripheral axonal neuropathy Reye syndrome-like episodes Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Abnormality of the renal tubule Proximal tubulopathy Abnormality of the cerebral white matter Abnormality of the genital system Cardiac arrest Clonus Leukodystrophy Decreased liver function Wide anterior fontanel Left ventricular hypertrophy Renal dysplasia Heterotopia Pachygyria Aciduria Exercise intolerance Increased serum lactate Gliosis Tetraplegia Renal cyst Metabolic acidosis Pulmonary hypoplasia Lactic acidosis Joint hyperflexibility Nausea and vomiting Type I diabetes mellitus Pancreatitis Medulloblastoma Drowsiness Exercise-induced myalgia Hypoketotic hypoglycemia Organic aciduria Chronic fatigue Excessive daytime somnolence Ketonuria Cardiorespiratory arrest Ketosis Myoglobinuria Acute kidney injury Spastic tetraparesis Rhabdomyolysis Glycosuria Difficulty climbing stairs Ventricular fibrillation Hemiplegia Back pain Polycystic kidney dysplasia Mutism Hyperammonemia Hypogonadism Facial edema Frontal bossing Hyperhomocystinemia Decreased fetal movement Cyanosis Esotropia Homocystinuria Distal amyotrophy Long face Ophthalmoplegia Arthrogryposis multiplex congenita Joint laxity Congenital hip dislocation Gastroesophageal reflux Polyhydramnios Recurrent respiratory infections Hypertelorism High palate Low-set ears Ptosis Premature graying of body hair Delusions Microretrognathia Hyperpigmented nevi Neck muscle weakness Central sleep apnea Spinal deformities Hallucinations Motor polyneuropathy Distal lower limb muscle weakness Limb-girdle muscle weakness Obstructive sleep apnea Central hypotonia Incoordination EMG: myopathic abnormalities Weak cry Spinal rigidity Bulbar palsy Toe walking Nasal speech Dysphonia Coronary artery atherosclerosis Thromboembolism Hyperpigmentation in sun-exposed areas Silver-gray hair Staring gaze Fasciculations Absent pubertal growth spurt Abnormality of the musculature of the lower limbs Delayed peripheral myelination Talipes equinovarus Structural foot deformity Puberty and gonadal disorders Overweight Obesity Deeply set eye Micrognathia Broad-based gait Muscular hypotonia of the trunk Developmental regression Urinary incontinence Delayed myelination Generalized myoclonic seizures Downturned corners of mouth Retinal dystrophy Focal myoclonic seizures Cognitive impairment Bowel urgency Abnormality of the genitourinary system Flexion contracture of toe Multiple lentigines Progressive spastic paraparesis White hair Progeroid facial appearance Vitiligo Premature graying of hair Bowel incontinence Spastic paraparesis Abnormality of the skeletal system Horseshoe kidney Narrow face Cafe-au-lait spot Spastic gait Febrile seizures Nevus Sepsis Hypopigmentation of the skin Retrognathia EEG with polyspike wave complexes Sudden episodic apnea Optic atrophy Myoclonus Dysmetria Corneal opacity Mental deterioration Proteinuria Split hand Coarse facial features Clumsiness Osteopenia Dementia Neurodegeneration Inguinal hernia Visual loss Hernia Blindness Steppage gait Visual impairment Abnormal levels of creatine kinase in blood Intellectual disability, borderline Peripheral demyelination Ascites Alacrima Dysostosis multiplex Anemia Polyneuropathy Urinary excretion of sialylated oligosaccharides Increased urinary O-linked sialopeptides Bone-marrow foam cells Cherry red spot of the macula Vacuolated lymphocytes Foam cells Barrel-shaped chest Progressive visual loss Thoracic kyphosis Hand tremor Syringomyelia Epiphyseal stippling Hyperactive deep tendon reflexes Postural instability Laryngomalacia Hydrops fetalis Choreoathetosis Right ventricular dilatation Recurrent ear infections Nasal regurgitation Progressive neurologic deterioration Cerebral cortical atrophy Brachycephaly Constipation Absent speech Epileptic encephalopathy Intrauterine growth retardation Hypsarrhythmia Myocardial infarction Growth delay EEG abnormality Acetylcholine receptor antibody positivity EMG: impaired neuromuscular transmission Episodic respiratory distress Frontalis muscle weakness Intermittent episodes of respiratory insufficiency due to muscle weakness Narrow jaw Choking episodes Apneic episodes precipitated by illness, fatigue, stress Hyperkeratosis Paresthesia Speech apraxia Intellectual disability, severe Achalasia Esophagitis Adrenal insufficiency Athetosis Impulsivity Limb-girdle muscular dystrophy CNS hypomyelination Infantile muscular hypotonia Truncal ataxia Severe global developmental delay Apraxia Generalized-onset seizure Hip dysplasia Focal-onset seizure Chorea Intellectual disability, mild Poor speech Apnea Stroke Upper limb amyotrophy



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