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.


Top matches:

Medium match LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

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

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1

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

Medium 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;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:

Medium match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M

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

Medium match MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S

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

Medium match MYOTONIC DYSTROPHY 1; DM1

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

Medium match SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1

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

Medium match CREATINE PHOSPHOKINASE, ELEVATED SERUM

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

Medium match MITOCHONDRIAL MYOPATHY WITH DIABETES

MITOCHONDRIAL MYOPATHY WITH DIABETES Is also known as mitochondrial myopathy, lipid type;

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Motor delay
  • Muscular hypotonia


SOURCES: GARD ORPHANET UMLS MESH MONDO OMIM

More info about MITOCHONDRIAL MYOPATHY WITH DIABETES

Medium match PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC

PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC Is also known as paralysis periodica paramyotonica

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Pica
  • Motor delay


SOURCES: OMIM

More info about PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC

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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