Ataxia, and Dyspnea

Diseases related with Ataxia and Dyspnea

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


Top matches:

Low match PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY


Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.

PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY Is also known as lactic acidemia with pyruvate dehydrogenase phosphatase deficiency|pdh phosphatase deficiency

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY

Low match PRIMARY DYSTONIA, DYT4 TYPE


DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).

PRIMARY DYSTONIA, DYT4 TYPE Is also known as dystonia musculorum deformans 4|whispering dysphonia, hereditary|dyt4|hereditary whispering dysphonia

Related symptoms:

  • Gait disturbance
  • Dysphagia
  • Respiratory distress
  • Dystonia
  • Dementia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY DYSTONIA, DYT4 TYPE

Low match HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS


Dejerine-Sottas neuropathy is a demyelinating peripheral neuropathy with onset in infancy. It can show autosomal dominant or recessive inheritance. Affected individuals have delayed motor development due to severe distal motor and sensory impairment, resulting in difficulties in gait. Some patients have generalized hypotonia in infancy. Other features may include pes cavus, scoliosis, and sensory ataxia. Nerve conduction velocities are severely decreased (sometimes less than 10 m/s), and sural nerve biopsy shows severe loss of myelinated fibers (summary by Baets et al., 2011).

HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS Is also known as hereditary motor and sensory neuropathy type iii|dsn|hmsn3|dss|dejerine-sottas syndrome|cmt3|charcot-marie-tooth disease, type 3|dejerine-sottas neuropathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

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Other less relevant matches:

Low match X-LINKED SIDEROBLASTIC ANEMIA


X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.

X-LINKED SIDEROBLASTIC ANEMIA Is also known as anemia, hereditary sideroblastic|xlsa|anemia, hypochromic|anemia, sideroblastic, x-linked|anh1|hereditary iron-loading anemia

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Anemia
  • Hepatomegaly
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED SIDEROBLASTIC ANEMIA

Low match PAROXYSMAL NON-KINESIGENIC DYSKINESIA


Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.

PAROXYSMAL NON-KINESIGENIC DYSKINESIA Is also known as paroxysmal dystonic choreoathetosis|choreoathetosis, nonkinesigenic|pdc|dystonia 8|paroxystic non-kinesigenic choreoathetosis|dyt8|choreoathetosis, familial paroxysmal|mount-reback syndrome|fpd1

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Dysarthria
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about PAROXYSMAL NON-KINESIGENIC DYSKINESIA

Low match AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA


Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.

AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA Is also known as tyrosine hydroxylase-deficient dopa-responsive dystonia|dyt5b|dopa-responsive dystonia, autosomal recessive|tyrosine hydroxylase deficiency|dystonia, dopa-responsive, autosomal recessive|parkinsonism, infantile, autosomal recessive|autosomal recessive seg

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Ptosis
  • Feeding difficulties
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA

Low match BRAIN-LUNG-THYROID SYNDROME


Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).

BRAIN-LUNG-THYROID SYNDROME Is also known as choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|brain-lung-thyroid syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRAIN-LUNG-THYROID SYNDROME

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8


Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E


Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E Is also known as cmt2e|charcot-marie-tooth neuropathy, type 2e

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

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

Low match VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB


Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblB and cblA (OMIM ). The cblA type is caused by mutation in the MMAA gene (OMIM ). The 'mut' type (OMIM ) is caused by mutation in the MUT gene; in general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB Is also known as vitamin b12-responsive methylmalonic aciduria, type cblb|methylmalonic acidemia, cblb type|methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB

Top 5 symptoms//phenotypes associated to Ataxia and Dyspnea

Symptoms // Phenotype % cases
Respiratory distress Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Dystonia Uncommon - Between 30% and 50% cases
Gait ataxia Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Muscle weakness Motor delay Dysphagia Muscular hypotonia Global developmental delay Skeletal muscle atrophy Encephalopathy Seizures Lethargy Intellectual disability Anemia Pes cavus Nystagmus Gait disturbance Acidosis

Rare Symptoms - Less than 30% cases


Foot dorsiflexor weakness Distal amyotrophy Distal sensory impairment Feeding difficulties Generalized muscle weakness Spasticity Myoclonus Ptosis Split hand Respiratory failure Choreoathetosis Chorea Rigidity Hammertoe Steppage gait Decreased motor nerve conduction velocity Difficulty walking Abnormality of movement Ulnar claw Fever Hepatomegaly Fatigue Hyperkinesis Infantile muscular hypotonia Paralysis Distal muscle weakness Generalized dystonia Brisk reflexes Muscular hypotonia of the trunk Lactic acidosis Kyphoscoliosis Involuntary movements Parkinsonism with favorable response to dopaminergic medication Torticollis Failure to thrive Limb dystonia Irritability Talipes equinovarus Hypertonia Peripheral neuropathy Cerebral atrophy Scoliosis Hyporeflexia Areflexia Neonatal respiratory distress Athetosis Focal dystonia Interstitial pulmonary abnormality Hypothyroidism Abnormality of the thyroid gland Excessive salivation Increased thyroid-stimulating hormone level Progressive encephalopathy Recurrent respiratory infections Compensated hypothyroidism Congenital hypothyroidism Night sweats Recurrent pneumonia Respiratory insufficiency Pneumonia Oculogyric crisis Abnormal lung morphology Asthma Atrial septal defect Sleep disturbance Abnormal cardiac septum morphology Respiratory tract infection Apnea Decreased CSF homovanillic acid Ventricular septal defect Thyroid dysgenesis Flexion contracture Hyperreflexia Dehydration Increased connective tissue Hypotrophy of the small hand muscles Vomiting Thrombocytopenia Feeding difficulties in infancy Metabolic acidosis Neutropenia Coma Aciduria Pancytopenia Nemaline bodies Hyperammonemia Abnormality of mitochondrial metabolism Ketosis Ketonuria Methylmalonic aciduria Abnormality of the mitochondrion Homocystinuria Hyperglycinemia Methylmalonic acidemia Decreased adenosylcobalamin Distal lower limb amyotrophy Impaired vibratory sensation Hypoplasia of the corpus callosum External ophthalmoplegia Developmental regression Ophthalmoplegia Neurodegeneration Increased serum lactate Optic disc pallor Tetraparesis Progressive neurologic deterioration Exotropia Spastic tetraparesis Leukoencephalopathy Congenital contracture Failure to thrive in infancy Stridor Abnormality of the periventricular white matter Hearing impairment Lower limb hyperreflexia High palate Myopathy Hyperkeratosis Facial palsy Abnormality of the hand Central hypotonia Episodic ataxia Hypokinesia Sensory ataxia Fasciculations Incoordination Decreased number of peripheral myelinated nerve fibers Onion bulb formation Increased CSF protein Demyelinating peripheral neuropathy Miosis Segmental peripheral demyelination/remyelination Polyneuropathy Hypertrophic nerve changes Splenomegaly Hepatosplenomegaly Elevated hepatic transaminase Pallor Vertigo Cirrhosis Sensory impairment Lower limb muscle weakness Hyperpigmentation of the skin Dysdiadochokinesis Edema Neonatal hypotonia Decreased activity of the pyruvate dehydrogenase complex Dementia Open mouth Narrow face Dysphonia Toe walking Abnormality of the foot Blepharospasm Laryngeal dystonia Torsion dystonia Eunuchoid habitus Upper limb postural tremor Lingual dystonia Sunken cheeks Movement abnormality of the tongue Falls Myelodysplasia Opisthotonus Intellectual disability, mild Paroxysmal dyskinesia Paroxysmal dystonia Kernicterus Paroxysmal choreoathetosis Staring gaze Delayed speech and language development Tremor Babinski sign Myokymia Constipation Hyperhidrosis Parkinsonism Bradykinesia Abnormality of extrapyramidal motor function Drooling Postural tremor Mask-like facies Facial grimacing Trismus Glucose intolerance Abnormality of iron homeostasis Microcytic anemia Macrocytic anemia Megaloblastic anemia Anemia of inadequate production Hypochromic microcytic anemia Hypocholesterolemia Sideroblastic anemia Hypolipidemia Encephalitis Thiamine-responsive megaloblastic anemia Headache Joint stiffness Neurological speech impairment Spastic paraplegia Paraplegia Dyskinesia Migraine Decreased methylmalonyl-CoA mutase activity



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