Dysarthria, and Dyspnea

Diseases related with Dysarthria and Dyspnea

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

Top matches:

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

Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.

EPISODIC ATAXIA TYPE 1 Is also known as episodic ataxia with myokymia

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Motor delay
  • Dysarthria
  • Respiratory distress


SOURCES: ORPHANET MENDELIAN

More info about EPISODIC ATAXIA TYPE 1

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

Other less relevant matches:

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

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

Charcot-Marie-Tooth disease type 2Y is an autosomal dominant peripheral neuropathy characterized by distal muscle weakness and atrophy associated with length-dependent sensory loss. Most patients have involvement of both the lower and upper limbs. The age at onset and the severity of the disorder are highly variable (summary by Gonzalez et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Y Is also known as charcot-marie-tooth disease, axonal, autosomal dominant, type 2y|cmt2y|autosomal dominant charcot-marie-tooth disease type 2 due to vcp mutation|cmt2 due to vcp mutation|charcot-marie-tooth neuropathy, type 2y

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy
  • Behavioral abnormality


SOURCES: ORPHANET OMIM MENDELIAN

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

Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D Is also known as lgmd1d|lgmd1e|muscular dystrophy, limb-girdle, type 1d, formerly|muscular dystrophy, limb-girdle, type 1e|lgmd1d, formerly

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Dysarthria
  • Dysphagia
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

AMYOTROPHIC LATERAL SCLEROSIS Is also known as als|amyotrophic lateral sclerosis 1, autosomal dominant|fals|lou gehrig disease|charcot disease|amyotrophic lateral sclerosis 1, familial

Related symptoms:

  • Microcephaly
  • Muscle weakness
  • Pain
  • Cataract
  • Spasticity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS

Medium match ACERULOPLASMINEMIA

Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACERULOPLASMINEMIA

Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001).

GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA Is also known as 5-oxoprolinuria|pyroglutamic aciduria

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA

Top 5 symptoms//phenotypes associated to Dysarthria and Dyspnea

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases
Respiratory distress Uncommon - Between 30% and 50% cases
Hypertonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscle weakness Fatigue Dysphagia Delayed speech and language development Neurodegeneration Motor delay Anemia Global developmental delay Difficulty walking Respiratory failure Skeletal muscle atrophy Dementia Parkinsonism Gait ataxia Pes cavus Generalized hypotonia Areflexia Tremor Choreoathetosis Hyperkinesis Generalized muscle weakness Myoclonus Rigidity Chorea

Rare Symptoms - Less than 30% cases

Proximal muscle weakness Parkinsonism with favorable response to dopaminergic medication Brisk reflexes Abnormality of extrapyramidal motor function Lethargy Slurred speech Bulbar palsy Irritability Encephalopathy Cerebral atrophy Muscle fibrillation Depressivity Amyotrophic lateral sclerosis Myositis Hypothyroidism Elevated serum creatine phosphokinase Intellectual disability Falls Lower limb muscle weakness Limb muscle weakness Hyperreflexia Acidosis Distal muscle weakness Tetraparesis Progressive neurologic deterioration Fever Behavioral abnormality Seizures Spastic tetraparesis Abnormality of movement Muscle cramps Torticollis Calf muscle hypertrophy Involuntary movements Nausea Hyperhidrosis Myokymia Headache Abnormality of muscle fibers Percussion myotonia Weakness of the intrinsic hand muscles Hyposegmentation of neutrophil nuclei Skeletal muscle fibrosis Autophagic vacuoles Microcephaly Fatty replacement of skeletal muscle Pain Pelvic girdle muscle weakness Cataract Neurological speech impairment Skeletal dysplasia Anxiety Paralysis Nausea and vomiting Tetraplegia Gliosis Neuronal loss in central nervous system Peripheral demyelination Loss of ability to walk Shoulder girdle muscle weakness Muscle fiber splitting Waddling gait Absent Achilles reflex Gait imbalance Abnormality of peripheral nerve conduction Poor fine motor coordination Abnormal nerve conduction velocity Abnormality of hand joint mobility Flexion contracture Myopathy Facial palsy Muscular dystrophy Foot dorsiflexor weakness Myofibrillar myopathy Dysphonia Limb-girdle muscular dystrophy Gowers sign Increased variability in muscle fiber diameter Difficulty climbing stairs Spastic paraplegia Rimmed vacuoles Spinal canal stenosis Progressive proximal muscle weakness Bulbar signs Sleep apnea Fasciculations Feeding difficulties Joint stiffness Neutropenia Scanning speech Refractory anemia Decreased serum ceruloplasmin Elevated hepatic iron concentration Decreased serum iron Aceruloplasminemia Vomiting Splenomegaly Recurrent infections Hemolytic anemia Metabolic acidosis Blepharospasm Sepsis Aciduria Pigmentary retinopathy Intention tremor Recurrent bacterial infections Renal tubular acidosis Increased reactive oxygen species production Compensated hemolytic anemia Chronic metabolic acidosis Glutathione synthetase deficiency Psychotic mentation Cogwheel rigidity Increased serum ferritin Emotional lability Fatigable weakness of respiratory muscles Impaired vibration sensation in the lower limbs Xerostomia Frontotemporal dementia Abnormal lower motor neuron morphology Degeneration of anterior horn cells Degeneration of the lateral corticospinal tracts Pseudobulbar paralysis Functional respiratory abnormality Motor neuron atrophy Laryngospasm Fatigable weakness of bulbar muscles Polyuria Fatigable weakness of swallowing muscles Cognitive impairment Congestive heart failure Diabetes mellitus Poor speech Confusion Retinal degeneration Cirrhosis Memory impairment Type I diabetes mellitus Cerebral palsy Agitation Scapular winging Abnormal joint morphology Postural instability Clumsiness Oculogyric crisis Decreased CSF homovanillic acid Specific learning disability Muscular hypotonia Ventricular septal defect Respiratory insufficiency Atrial septal defect Pneumonia Recurrent respiratory infections Vertigo Excessive salivation Apnea Respiratory tract infection Abnormal cardiac septum morphology Sleep disturbance Asthma Abnormal lung morphology Recurrent pneumonia Infantile muscular hypotonia Neonatal respiratory distress Athetosis Night sweats Focal dystonia Abnormality of the thyroid gland Myotonia Talipes equinovarus Intellectual disability, mild Craniofacial disproportion Tip-toe gait Babinski sign Constipation Hand clenching Poor coordination Muscular hypotonia of the trunk Blurred vision Bradykinesia Generalized dystonia Muscle stiffness Drooling Postural tremor Mask-like facies Diplopia Opisthotonus Hypokinesia Lower limb hyperreflexia Limb dystonia Central hypotonia Progressive encephalopathy Interstitial pulmonary abnormality Congenital hypothyroidism Paraplegia Paresthesia Episodic ataxia Trismus Arthralgia Encephalitis Abnormality of the nervous system Hyperlordosis Cough Abnormality of the foot Migraine Unsteady gait Peripheral axonal neuropathy Peripheral neuropathy Dyskinesia Distal amyotrophy Distal sensory impairment Sensory impairment Broad-based gait Frequent falls Sensorimotor neuropathy Ptosis Hammertoe Toe walking Facial grimacing Abnormality of the periventricular white matter Increased thyroid-stimulating hormone level Developmental regression Compensated hypothyroidism Thyroid dysgenesis Kyphoscoliosis Nystagmus Failure to thrive Cerebellar atrophy Scoliosis Gait disturbance Hypoplasia of the corpus callosum Staring gaze Ophthalmoplegia Stridor Lactic acidosis Paroxysmal choreoathetosis Increased serum lactate Optic disc pallor Kernicterus Paroxysmal dystonia Exotropia Paroxysmal dyskinesia External ophthalmoplegia Leukoencephalopathy Failure to thrive in infancy Increased level of L-pyroglutamic acid in urine


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