Ataxia, and Muscular dystrophy

Diseases related with Ataxia and Muscular dystrophy

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


Top matches:

Low match NONAKA MYOPATHY; NM


NONAKA MYOPATHY; NM Is also known as myopathy, distal, with or without rimmed vacuoles|gne myopathy|inclusion body myopathy 2, autosomal recessive, formerly|ibm2, formerly|hibm|nonaka distal myopathy|inclusion body myopathy, quadriceps-sparing|qsm|inclusion body myopathy, hereditary, autosom

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Gait disturbance
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: OMIM MENDELIAN

More info about NONAKA MYOPATHY; NM

Low match BILATERAL FRONTOPARIETAL POLYMICROGYRIA


Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.

BILATERAL FRONTOPARIETAL POLYMICROGYRIA Is also known as cerebellar ataxia with neuronal migration defect

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BILATERAL FRONTOPARIETAL POLYMICROGYRIA

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14 Is also known as walker-warburg syndrome or muscle-eye-brain disease, gmppb-related

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14

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Other less relevant matches:

Low match INTELLECTUAL DISABILITY-HYPERKINETIC MOVEMENT-TRUNCAL ATAXIA SYNDROME


Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-HYPERKINETIC MOVEMENT-TRUNCAL ATAXIA SYNDROME

Low match MUSCULAR DYSTROPHY, SELCEN TYPE


Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Abnormality of the skeletal system


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MUSCULAR DYSTROPHY, SELCEN TYPE

Low match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Low match CHANARIN-DORFMAN SYNDROME; CDS


CHANARIN-DORFMAN SYNDROME; CDS Is also known as neutral lipid storage disease with ichthyosis|dcs|nlsdi|triglyceride storage disease with impaired long-chain fatty acid oxidation|dorfman-chanarin syndrome|chanarin-dorfman disease|ichthyosiform erythroderma with leukocyte vacuolation|ichthyotic neutral

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHANARIN-DORFMAN SYNDROME; CDS

Low match SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1


Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

Low match MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY


Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY Is also known as myoneurogastrointestinal encephalopathy syndrome|polip syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|mngie|mngie, tymp-related

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY

Low 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

Top 5 symptoms//phenotypes associated to Ataxia and Muscular dystrophy

Symptoms // Phenotype % cases
Myopathy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Muscular dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Proximal muscle weakness Seizures Strabismus Limb-girdle muscular dystrophy Difficulty walking Pain Myalgia Cataract Sensorineural hearing impairment Hearing impairment Peripheral neuropathy Restrictive ventilatory defect Truncal ataxia Hyporeflexia Areflexia Limb muscle weakness Short stature Muscle cramps Dysarthria Scoliosis Gait disturbance Microcephaly

Rare Symptoms - Less than 30% cases


Intellectual disability, severe Muscle fiber atrophy Inability to walk Ptosis Demyelinating peripheral neuropathy Hepatosplenomegaly Myopia Cerebral atrophy Axonal loss Chorea Infantile muscular hypotonia Progressive proximal muscle weakness Feeding difficulties Right ventricular dilatation Hypertonia Hepatic steatosis Easy fatigability Scapular winging Exercise-induced muscle cramps Paralysis EMG: myopathic abnormalities Hepatomegaly Distal sensory impairment Absent speech Polyneuropathy Constipation Dysphagia Delayed speech and language development Abnormal cerebellum morphology Nystagmus Anemia Distal muscle weakness Distal amyotrophy Fatigue Tremor Skeletal muscle atrophy Cerebellar hypoplasia Skeletal myopathy Elevated hepatic transaminase Motor delay Ophthalmoparesis Decreased muscle mass Difficulty climbing stairs Chronic diarrhea Decreased motor nerve conduction velocity Leukodystrophy Malnutrition Cachexia Sensorimotor neuropathy Foot dorsiflexor weakness Hypergonadotropic hypogonadism Hypogonadotrophic hypogonadism Abnormality of mitochondrial metabolism External ophthalmoplegia Leukoencephalopathy Bilateral ptosis Abnormality of the hand Ragged-red muscle fibers Polycystic ovaries Distal lower limb amyotrophy Aspiration pneumonia Acidosis Tongue atrophy Limb tremor Motor neuron atrophy Erectile abnormalities Laryngospasm Proximal spinal muscular atrophy Vomiting Diarrhea Decreased LDL cholesterol concentration Dementia Abdominal pain Weight loss Hyperlipoproteinemia Gastroesophageal reflux Peripheral demyelination Abnormality of the cerebral white matter Ophthalmoplegia Malabsorption Abnormality of eye movement Testicular atrophy Kinetic tremor Oligospermia Paresthesia Peripheral axonal neuropathy Lactic acidosis Nausea Bulbar signs Cirrhosis Abdominal distention Axonal degeneration Diffuse leukoencephalopathy Scleroderma Generalized-onset seizure Hyperkeratosis EEG abnormality Hyperlordosis Abnormality of the liver Attention deficit hyperactivity disorder Generalized tonic-clonic seizures Congenital cataract Carious teeth Poor speech Abnormality of movement Unsteady gait Waddling gait Focal-onset seizure Hip dysplasia Apraxia Brachycephaly Lower limb spasticity CNS hypomyelination Gowers sign Impulsivity Athetosis Adrenal insufficiency Esophagitis Achalasia Speech apraxia Recurrent ear infections Alacrima Intellectual disability, borderline Abnormal levels of creatine kinase in blood Cerebral white matter atrophy Cerebral cortical atrophy Dystonia Poor appetite Cytochrome C oxidase-negative muscle fibers Mitochondrial myopathy Progressive external ophthalmoplegia Abnormality of the vasculature Increased CSF protein Abnormality of the gastrointestinal tract Slender build Absent Achilles reflex Gastrointestinal dysmotility Abnormality of the mitochondrion Decreased number of large peripheral myelinated nerve fibers Intestinal pseudo-obstruction Hyperalaninemia Intermittent diarrhea Gastroparesis Macrovesicular hepatic steatosis Cerebellar atrophy Decreased sensory nerve conduction velocity Abnormality of the mouth Multiple mitochondrial DNA deletions Subsarcolemmal accumulations of abnormally shaped mitochondria Intestinal perforation Hypointensity of cerebral white matter on MRI Atrophic muscularis propria Abnormal cell morphology Abnormality of the extraocular muscles Small intestinal dysmotility Generalized hypotonia Growth delay Spasticity Intrauterine growth retardation Hand tremor Erythroderma Overweight Mitral regurgitation Hyperkinesis Exercise-induced muscle fatigue Flexion contracture Abnormality of the skeletal system Respiratory insufficiency Cardiomyopathy Pes cavus Gait ataxia Hypertrophic cardiomyopathy Facial palsy Lower limb muscle weakness Sensory impairment Abnormal lung morphology Hypoplasia of the pons Knee flexion contracture Nasal speech Impaired vibratory sensation Toe walking Steppage gait Generalized amyotrophy Spinal rigidity Thoracic scoliosis Restrictive cardiomyopathy Myofibrillar myopathy Muscle fiber splitting Diaphragmatic paralysis High palate Hypoglycosylation of alpha-dystroglycan Oligohydramnios Splenomegaly Polymicrogyria Alzheimer disease Rimmed vacuoles Myositis Limb-girdle muscle weakness Morphological abnormality of the central nervous system Deposits immunoreactive to beta-amyloid protein Hyperreflexia Ventriculomegaly Babinski sign Intellectual disability, moderate Abnormal pyramidal sign Dysmetria Esotropia Cleft palate Broad-based gait Pachygyria Exotropia Lissencephaly Congenital muscular dystrophy Hypoplasia of the brainstem Ankle clonus Type II lissencephaly Nonprogressive cerebellar ataxia Perisylvian polymicrogyria Cerebral dysmyelination Frontoparietal polymicrogyria Polymicrogyria, anterior to posterior gradient Brachydactyly Renal insufficiency Abnormality of lipid metabolism Type II diabetes mellitus Congenital ichthyosiform erythroderma Abnormality of blood and blood-forming tissues Subcapsular cataract Congenital nonbullous ichthyosiform erythroderma Decreased plasma carnitine Generalized ichthyosis Muscular hypotonia Pneumonia Infertility Facial asymmetry Sensory neuropathy Neurodegeneration Intention tremor Scaling skin Progressive muscle weakness Gynecomastia Fasciculations Aspiration Hyperlipidemia Dysphonia Spinal muscular atrophy Calf muscle hypertrophy Amyotrophic lateral sclerosis Impotence Decreased fertility Bulbar palsy Muscle fibrillation Ectropion Aortic regurgitation Encephalopathy Hemiplegia Visual loss Rod-cone dystrophy Jaundice Mental deterioration Retinal dystrophy Hemolytic anemia Migraine Tetraparesis Exercise intolerance Hyperbilirubinemia Purpura Spastic tetraparesis Emotional lability Everted lower lip vermilion Aphasia Rhabdomyolysis Acute kidney injury Reticulocytosis Progressive encephalopathy Myoglobinuria Decreased mean corpuscular volume Increased muscle fatiguability Recurrent myoglobinuria Exercise-induced myoglobinuria Alopecia Microtia Ichthyosis Exophoria



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Telecanthus, related diseases and genetic alterations Autoimmunity and Bradycardia, related diseases and genetic alterations Cleft palate and Diarrhea, related diseases and genetic alterations Muscle weakness and Genu valgum, related diseases and genetic alterations Hypertelorism and Hirsutism, related diseases and genetic alterations Ataxia and Generalized myoclonic seizures, related diseases and genetic alterations

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