Delayed speech and language development, and Myalgia
Diseases related with Delayed speech and language development and Myalgia
In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Myalgia that can help you solving undiagnosed cases.
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A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.
LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lcad
Related symptoms:
- Generalized hypotonia
- Myopathy
- Feeding difficulties
- Hepatomegaly
- Vomiting
SOURCES:
UMLS
ORPHANET
More info about LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY
Limb-girdle muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) represent the mildest end of the phenotypic spectrum of muscular dystrophies collectively known as dystroglycanopathies. The limb-girdle phenotype is characterized by onset of muscular weakness apparent after ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; review by Godfrey et al., 2007). The most severe end of the phenotypic spectrum of dystroglycanopathies is represented by congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, {236670}), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and the intermediate range of the spectrum is represented by congenital muscular dystrophy-dystroglycanopathy with or without mental retardation (type B; see MDDGB1, {613155}). Genetic Heterogeneity of Limb-Girdle Muscular Dystrophy-Dystroglycanopathy (Type C)Limb-girdle muscular dystrophy due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGC2 (OMIM ), caused by mutation in the POMT2 gene (OMIM ); MDDGC3 (OMIM ), caused by mutation in the POMGNT1 gene (OMIM ); MDDGC4 (OMIM ), caused by mutation in the FKTN gene (OMIM ); MDDGC5 (OMIM ), caused by mutation in the FKRP gene (OMIM ); MDDGC7 (OMIM ), caused by mutation in the ISPD gene (OMIM ); MDDGC9 (OMIM ) caused by mutation in the DAG1 gene (OMIM ); MDDGC12 (OMIM ), caused by mutation in the POMK gene (OMIM ); and MDDGC14 (OMIM ) caused by mutation in the GMPPB gene (OMIM ).
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1 Is also known as muscular dystrophy, limb-girdle, type 2k;lgmd2k;lgmd2k; limb-girdle muscular dystrophy-intellectual disability syndrome
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Microcephaly
- Scoliosis
- Motor delay
SOURCES:
GARD
NCIT
MONDO
EFO
UMLS
DOID
OMIM
ORPHANET
SCTID
More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1
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;gsd due to phosphoglycerate kinase 1 deficiency; glycogenosis due to phosphoglycerate kinase 1 deficiency
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Ataxia
SOURCES:
MESH
GARD
MONDO
OMIM
ORPHANET
NCIT
UMLS
More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY
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Other less relevant matches:
gene led to a 96 to 98% reduction in DK activity.
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M Is also known as cdg im;cdgim, dolichol kinase deficiency, dk1 deficiency;cdg syndrome type im; cdg-im; cdg1m; carbohydrate deficient glycoprotein syndrome type im; congenital disorder of glycosylation type 1m; congenital disorder of glycosylation type im; dolichol kinase deficiency; hypotonia and ichthyosis due to dolichol phosphate deficiency
Related symptoms:
- Autosomal recessive inheritance
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
ORPHANET
UMLS
MESH
OMIM
MONDO
SCTID
GARD
More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M
LGMD2S is an autosomal recessive disorder characterized by childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by Bogershausen et al., 2013). Additional more variable features include alacrima, achalasia, cataracts, or hepatic steatosis (Liang et al., 2015; Koehler et al., 2017).For discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMD2A (OMIM ).
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S Is also known as ;lgmd2s
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
SOURCES:
DOID
ORPHANET
OMIM
MONDO
UMLS
GARD
More info about MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S
Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q.
MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1, dystrophia myotonica;dm, steinert disease;dm1; md1; myotonic dystrophy type 1; steinert disease
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Generalized hypotonia
- Pica
SOURCES:
GARD
UMLS
OMIM
DOID
NCIT
ORPHANET
MONDO
More info about MYOTONIC DYSTROPHY 1; DM1
Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age. The disorder is distinguished from benign familial infantile seizures (BFIS1 ) by an earlier age at onset.Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. Genetic Heterogeneity of Benign Familial Neonatal SeizuresSee also BFNS2 (OMIM ), which is caused by mutation in the KCNQ3 gene (OMIM ) on chromosome 8q24, and BFNS3 (OMIM ), which has been associated with a pericentric inversion on chromosome 5. See {269720} for a possible autosomal recessive form.
Related symptoms:
- Autosomal recessive inheritance
- Autosomal dominant inheritance
- Seizures
- Global developmental delay
- Pica
SOURCES:
OMIM
MONDO
More info about SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. [HPO:probinson]
CREATINE PHOSPHOKINASE, ELEVATED SERUM Is also known as cpk, elevated serum, hyperckemia, idiopathic
Related symptoms:
- Autosomal dominant inheritance
- Failure to thrive
- Motor delay
- Milia
- Nevus
SOURCES:
MONDO
OMIM
UMLS
More info about CREATINE PHOSPHOKINASE, ELEVATED SERUM
Top 5 symptoms//phenotypes associated to Delayed speech and language development and Myalgia
Symptoms // Phenotype |
% cases |
Motor delay |
Common - Between 50% and 80% cases
|
Myopathy |
Common - Between 50% and 80% cases
|
Generalized hypotonia |
Common - Between 50% and 80% cases
|
Muscle weakness |
Uncommon - Between 30% and 50% cases
|
Intellectual disability |
Uncommon - Between 30% and 50% cases
|
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Other less frequent symptoms
Patients with Delayed speech and language development and Myalgia. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Elevated serum creatine phosphokinase
Muscular dystrophy
Global developmental delay
Seizures
Autosomal recessive inheritance
Autosomal dominant inheritance
Fatigue
Cerebral cortical atrophy
Ataxia
Short stature
Feeding difficulties
Hepatomegaly
Muscular hypotonia
Muscle cramps
Dilatation
Proximal muscle weakness
Pain
Neonatal hypotonia
Progressive muscle weakness
Difficulty walking
Muscle stiffness
Pica
Milia
EMG: myopathic abnormalities
Tics
Nevus
Rare Symptoms - Less than 30% cases
Mental deterioration
Renal insufficiency
Splenomegaly
Exercise intolerance
Rhabdomyolysis
Cognitive impairment
Increased muscle fatiguability
Constipation
Mitochondrial myopathy
Fever
Percussion myotonia
Myotonia
Sensory neuropathy
Facial palsy
Peripheral neuropathy
Unsteady gait
Hyporeflexia
Exercise-induced muscle cramps
Cerebral atrophy
Dysarthria
Cataract
Recurrent pneumonia
Elevated hepatic transaminase
Hyperkeratosis
Arrhythmia
Centrally nucleated skeletal muscle fibers
Failure to thrive
Limb-girdle muscular dystrophy
Strabismus
Respiratory distress
Cardiac arrest
Infantile onset
Hepatic steatosis
Atrial flutter
Trophic changes related to pain
Scoliosis
Gowers sign
Microcephaly
Waddling gait
Autistic behavior
Exercise-induced myoglobinuria
Skeletal muscle hypertrophy
Cardiomyopathy
Generalized muscle weakness
Mitral valve prolapse
Intellectual disability, progressive
Syncope
Spontaneous abortion
Brain atrophy
Premature birth
Insulin resistance
Decreased fetal movement
Congenital muscular dystrophy
EMG abnormality
Atrial fibrillation
Ventricular tachycardia
Cholelithiasis
Mask-like facies
Non-midline cleft lip
Lethargy
Atrioventricular block
Alzheimer disease
Thin ribs
Neurofibrillary tangles
Hydrops fetalis
Stroke
Tachycardia
Intellectual disability, severe
Speech apraxia
Alacrima
Asymmetric growth
Recurrent ear infections
Exophoria
Prolonged QT interval
Tachypnea
Ptosis
Cryptorchidism
Hyperammonemia
Skeletal muscle atrophy
Edema
Dysphagia
Heart block
Hydrocephalus
Hypertonia
Abnormality of cardiovascular system morphology
Polyhydramnios
Dementia
Hypogonadism
Respiratory failure
Feeding difficulties in infancy
Sudden cardiac death
Hip dislocation
Lower limb muscle weakness
Talipes
Facial diplegia
Testicular atrophy
Abnormality of the endocrine system
Abnormal facial shape
Inflammatory myopathy
Babinski sign
Diabetes mellitus
Limb muscle weakness
Type II diabetes mellitus
Ragged-red muscle fibers
Proximal amyotrophy
Mitochondrial inheritance
Peripheral arterial stenosis
Decreased activity of mitochondrial complex IV
Weakness of orbicularis oculi muscle
Paralysis
Malignant hyperthermia
Laryngomalacia
Hyperkalemia
Stridor
Loss of consciousness
Hand muscle weakness
Inspiratory stridor
Periodic paralysis
Periodic hyperkalemic paralysis
Handgrip myotonia
Lid lag on downgaze
Neonatal inspiratory stridor
Abnormality of muscle fibers
Vomiting
Nonimmune hydrops fetalis
Ring fibers
Abnormal hair quantity
Abnormal EKG
Abnormality of the upper urinary tract
Esophagitis
Personality disorder
Frontal balding
Narcolepsy
Hernia of the abdominal wall
Excessive daytime sleepiness
Obsessive-compulsive trait
First degree atrioventricular block
Ventouse delivery
Delayed gross motor development
Hypertrophic cardiomyopathy
Heterogeneous
Abnormality of the nervous system
Apnea
Febrile seizures
Generalized tonic-clonic seizures
Cyanosis
Involuntary movements
Neonatal onset
Myokymia
Focal clonic seizures
Asthma
Achalasia
Truncal ataxia
Progressive proximal muscle weakness
Myoglobinuria
Retinal dystrophy
Migraine
Tetraparesis
Spastic tetraparesis
Hyperbilirubinemia
Purpura
Emotional lability
Reticulocytosis
Acute kidney injury
Ventriculomegaly
Progressive encephalopathy
Decreased mean corpuscular volume
Abdominal pain
Flexion contracture
Recurrent myoglobinuria
Nystagmus
Mild expressive language delay
Decreased activity of 3-hydroxyacyl-CoA dehydrogenase
Congestive heart failure
Alopecia
Absent speech
Elevated creatine kinase after exercise
Hepatocellular necrosis
Hypoglycemia
Hemolytic anemia
Hepatosplenomegaly
Dilated cardiomyopathy
Easy fatigability
Generalized amyotrophy
Difficulty climbing stairs
Hypokinesia
Increased variability in muscle fiber diameter
Spinal rigidity
Type 1 muscle fiber predominance
Limb-girdle muscle weakness
Abnormal glycosylation
Impaired visuospatial constructive cognition
Triceps weakness
Thigh hypertrophy
Left ventricular hypertrophy
Jaundice
Anemia
Lumbar hyperlordosis
Brachydactyly
Ventricular hypertrophy
Cough
Slow progression
Encephalopathy
X-linked recessive inheritance
Rod-cone dystrophy
Dyspnea
Visual loss
Ichthyosis
Dry skin
Impulsivity
Chorea
Decreased plasma carnitine
Fatigable weakness
Brachycephaly
Hyperlordosis
Attention deficit hyperactivity disorder
Congenital cataract
Abnormality of the liver
Abnormality of movement
Carious teeth
Prolonged neonatal jaundice
Poor speech
Focal seizures
Dystonia
Esotropia
Hip dysplasia
Apraxia
Athetosis
Generalized seizures
Inability to walk
Lower limb spasticity
Calf muscle hypertrophy
Amblyopia
CNS hypomyelination
Adrenal insufficiency
Hypothermia
Cerebellar atrophy
Death in infancy
Epileptic spasms
Tetraplegia
Exercise-induced rhabdomyolysis
Hypsarrhythmia
Sparse and thin eyebrow
Postnatal microcephaly
Inflammatory abnormality of the skin
Sparse eyelashes
Aspiration
Severe muscular hypotonia
Lipoatrophy
Abnormality of coagulation
Myocarditis
Tremor
Aplasia/Hypoplasia of the nipples
Adactyly
Congenital hepatic fibrosis
Hypoketotic hypoglycemia
Ketotic hypoglycemia
Abnormal isoelectric focusing of serum transferrin
Growth delay
Nonketotic hypoglycemia
Spasticity
Dicarboxylic aciduria
Intrauterine growth retardation
Myopia
Paradoxical myotonia
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