Ataxia, and Hip dislocation

Diseases related with Ataxia and Hip dislocation

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


Top matches:

Medium match ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME


Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME

Medium match INHERITED CONGENITAL SPASTIC TETRAPLEGIA


Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.

INHERITED CONGENITAL SPASTIC TETRAPLEGIA Is also known as spastic quadriplegic cerebral palsy|inherited congenital spastic quadriplegia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about INHERITED CONGENITAL SPASTIC TETRAPLEGIA

Medium match HEREDITARY HYPEREKPLEXIA


Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

HEREDITARY HYPEREKPLEXIA Is also known as hereditary hyperexplexia|familial startle disease|kok disease|startle disease, familial|stiff baby syndrome|exaggerated startle reaction|sthe|congenital stiff man syndrome|stiff-baby syndrome|stiff-person syndrome, congenital|startle reaction, exaggerated

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY HYPEREKPLEXIA

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Other less relevant matches:

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

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 AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2C


Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2C Is also known as hmsn iic|charcot-marie-tooth neuropathy, type 2c|charcot-marie-tooth disease, axonal, autosomal dominant, type 2c|cmt2c

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2C

Medium match INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE


INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE Is also known as imnepd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE

Medium match PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B


Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement (summary by Wan et al., 2012). PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival (summary by Halevy et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B

Low 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

Low match ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY


Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Ataxia and Hip dislocation

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Hip dislocation. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Spasticity

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Congenital hip dislocation Motor delay Nystagmus Hyperreflexia Generalized hypotonia Difficulty walking Strabismus Growth delay Sensorineural hearing impairment Spastic paraplegia Muscle weakness Paraplegia Respiratory failure Hyporeflexia Fasciculations Peripheral neuropathy Areflexia Cognitive impairment Waddling gait Hearing impairment Distal amyotrophy Talipes equinovarus Scoliosis Babinski sign Hypertonia

Rare Symptoms - Less than 30% cases


Progressive microcephaly Kyphoscoliosis Progressive spastic paraplegia Tetraparesis Ophthalmoplegia Urinary incontinence Dysphagia Generalized muscle weakness Generalized myoclonic seizures Retinal dystrophy Abnormality of the foot Developmental regression Muscular hypotonia of the trunk Easy fatigability Proximal muscle weakness Skeletal muscle atrophy Decreased fetal movement Dysphonia Cerebellar atrophy Cerebral atrophy Failure to thrive Obstructive sleep apnea Stridor Feeding difficulties Sensorimotor neuropathy Respiratory insufficiency Visual impairment Distal muscle weakness Absent speech Pes cavus Poor head control Weak cry Ptosis Abnormal facial shape Spinal muscular atrophy Dystonia Delayed speech and language development Apnea Spastic tetraplegia Abnormality of movement Gastroesophageal reflux Hypertelorism Myoclonus Cerebellar hypoplasia Gait disturbance Fatigue Recurrent respiratory infections Atrophy of the spinal cord Motor neuron atrophy Poor suck Talipes valgus Abnormal anterior horn cell morphology Retrocerebellar cyst Cerebral palsy Low-set ears High palate Diplopia Polyhydramnios Cyanosis Joint laxity Pectus carinatum Cerebellar cyst EMG: myopathic abnormalities Arthrogryposis multiplex congenita Intellectual disability, severe Long face Microretrognathia Oligodontia Esotropia Tongue atrophy Abnormal lower motor neuron morphology Degeneration of anterior horn cells Progressive muscle weakness Pancreatic fibrosis Tremor Fever Pneumonia Severe global developmental delay Talipes Dysmetria Abnormal cerebellum morphology Gliosis Brain atrophy Apraxia Intention tremor Oculomotor apraxia Tongue fasciculations Cone/cone-rod dystrophy Abnormality of brain morphology Adducted thumb Congenital contracture Hypoplasia of the brainstem Brisk reflexes Global brain atrophy Gaze-evoked nystagmus Spastic diplegia Axonal loss Toe walking Hypoplasia of the pons Nasal speech Spinal rigidity Bulbar palsy Leukoencephalopathy Neonatal hypotonia Hypertrophic cardiomyopathy Respiratory tract infection Retinopathy Dilated cardiomyopathy Lactic acidosis Tetraplegia Increased serum lactate Pigmentary retinopathy Mitral regurgitation Leukodystrophy Exercise intolerance External ophthalmoplegia Ragged-red muscle fibers Dementia Oral-pharyngeal dysphagia Rhabdomyolysis Ketosis Preeclampsia Ketonuria Left ventricular noncompaction Paraganglioma Hemolytic-uremic syndrome Increased intramyocellular lipid droplets Progressive leukoencephalopathy Decreased activity of mitochondrial complex II Abnormal mitochondria in muscle tissue Left ventricular systolic dysfunction Acidosis Arrhythmia Exocrine pancreatic insufficiency Nasal regurgitation Fatigable weakness Neck muscle weakness Central hypotonia Limb-girdle muscle weakness Distal lower limb muscle weakness Motor polyneuropathy Muscle fiber atrophy Respiratory arrest Spinal deformities Central sleep apnea EEG with polyspike wave complexes Staring gaze Sudden episodic apnea Apneic episodes precipitated by illness, fatigue, stress Congestive heart failure Choking episodes Narrow jaw Intermittent episodes of respiratory insufficiency due to muscle weakness Frontalis muscle weakness Episodic respiratory distress EMG: impaired neuromuscular transmission Acetylcholine receptor antibody positivity Optic atrophy Cardiomyopathy Blindness Myopathy Vomiting Diarrhea Ankle contracture Proximal placement of thumb Shawl scrotum Horseshoe kidney Atonic seizures Retrognathia Abnormality of the nervous system Lower limb muscle weakness Hypopigmentation of the skin Sepsis Nevus Sensory impairment Febrile seizures Spastic gait Cafe-au-lait spot Narrow face Paraparesis Esophagitis Spastic paraparesis Abnormality of the genitourinary system Bowel incontinence Premature graying of hair Axonal degeneration Vitiligo Progeroid facial appearance White hair Progressive spastic paraparesis Multiple lentigines Flexion contracture of toe Bowel urgency Silver-gray hair Hiatus hernia Micrognathia Hyperpigmentation in sun-exposed areas Delayed myelination Hypoplasia of the corpus callosum Obesity Abnormality of the skeletal system Deeply set eye Macrocephaly Myopia Generalized tonic-clonic seizures Dysarthria Unsteady gait Inability to walk Downturned corners of mouth Muscular hypotonia Nocturnal seizures Focal myoclonic seizures Lumbar hyperlordosis Exaggerated startle response Broad-based gait Lower limb spasticity Myokymia Overweight Cerebral white matter atrophy Puberty and gonadal disorders Structural foot deformity Exophoria Delayed peripheral myelination Abnormality of the musculature of the lower limbs Absent pubertal growth spurt Hyperpigmented nevi Premature graying of body hair Steatorrhea Decreased distal sensory nerve action potential Vocal cord paralysis Hand muscle weakness Oculomotor nerve palsy Inspiratory stridor Progressive peripheral neuropathy Abducens palsy Shoulder girdle muscle atrophy Diaphragmatic weakness Vocal cord paresis Hand muscle atrophy Bilateral vocal cord paralysis Intercostal muscle weakness Bilateral vocal cord paresis Umbilical hernia Hepatomegaly Inguinal hernia Midface retrusion Brachycephaly Hypothyroidism Thin upper lip vermilion Progressive cerebellar ataxia Encephalopathy Postnatal microcephaly Exotropia Hepatic fibrosis Hernia Kyphosis Down-sloping shoulders Wheezing Hypokinesia Limb muscle weakness Loss of consciousness Myotonia Joint dislocation Respiratory distress Pectus excavatum Muscle stiffness Aspiration Frequent falls Epileptic encephalopathy Skeletal dysplasia Paralysis Sleep disturbance Dolichocephaly Peripheral axonal neuropathy Urinary urgency Falls Distal sensory impairment Sensory neuropathy Polyneuropathy Bilateral sensorineural hearing impairment Joint stiffness Hoarse voice Foot dorsiflexor weakness Knee flexion contracture Sleep apnea Anxiety Rigidity Hammertoe Stress/infection-induced lactic acidosis



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