Motor delay, and Insulin resistance

Diseases related with Motor delay and Insulin resistance

In the following list you will find some of the most common rare diseases related to Motor delay and Insulin resistance that can help you solving undiagnosed cases.

Top matches:

Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1 Is also known as mssgm

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1

Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

Other less relevant matches:

Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY Is also known as igf1 deficiency|primary insulin-like growth factor deficiency|growth retardation with sensorineural deafness and mental retardation|growth delay-deafness- intellectual disability syndrome|igf-1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY

DIDOD is a disorder characterized by global developmental delay apparent from infancy, intellectual disability or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and additional features are variable (summary by Jansen et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES; DIDOD

Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see {601410}) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see {125853}) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM ).Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes.Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect.

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM Is also known as diabetes mellitus, permanent, of infancy|pdmi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

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 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

Medium match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Top 5 symptoms//phenotypes associated to Motor delay and Insulin resistance

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Motor delay and Insulin resistance. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Generalized hypotonia Muscular hypotonia Short stature Seizures Diabetes mellitus Muscle weakness Peripheral neuropathy Myopathy Dehydration Prominent metopic ridge Clinodactyly Hypogonadism Small for gestational age Downturned corners of mouth Cardiomyopathy Bilateral ptosis Microcephaly Hyperglycemia Autoimmune antibody positivity

Rare Symptoms - Less than 30% cases

Apraxia Edema Generalized myoclonic seizures Anteverted nares Coma Arthrogryposis multiplex congenita Generalized tonic-clonic seizures Retinopathy Weight loss Abnormal heart morphology Intellectual disability, severe Abnormality of the nervous system Easy fatigability Progressive muscle weakness Glycosuria Abnormality of the upper urinary tract Renal tubular dysfunction Behavioral abnormality High palate Short nose Strabismus Hypertelorism Radial deviation of finger Cafe-au-lait spot Attention deficit hyperactivity disorder Hyperactivity Severe short stature Abnormal facial shape Ketonuria Micrognathia Growth delay Elevated hemoglobin A1c Transient neonatal diabetes mellitus Myalgia Pancreatic hypoplasia Hypovolemia Long philtrum Delayed speech and language development Contractures of the joints of the lower limbs Neurodevelopmental delay Osteoporosis Congestive heart failure Hypoglycemia Delayed puberty Elevated serum creatine phosphokinase Insulin-resistant diabetes mellitus Difficulty running Centrally nucleated skeletal muscle fibers Ketoacidosis Maternal diabetes Difficulty walking Proximal muscle weakness Sensorineural hearing impairment Pain Skeletal muscle atrophy Peripheral axonal neuropathy Hepatomegaly Obesity Stereotypy Ataxia Hydrops fetalis Myotonia Premature birth Mitral valve prolapse Decreased fetal movement Hypoplastic frontal sinuses Neurofibrillary tangles J-shaped sella turcica Thin ribs Alzheimer disease Atrial fibrillation Cholelithiasis Peripheral edema Atrioventricular block Ventricular tachycardia Intellectual disability, progressive Absent frontal sinuses Spontaneous abortion Sensory neuropathy Cardiac arrest Brain atrophy Abdominal distention Tachycardia Cerebral atrophy Abnormality of the immune system Aspiration pneumonia Mild global developmental delay Limb joint contracture Beta-cell dysfunction Thickened ears Clinodactyly of the 4th finger Cataract Cognitive impairment Dysphagia Respiratory distress Constrictive pericarditis Dilatation Unsteady gait Arrhythmia Dementia Cerebral cortical atrophy Respiratory failure Polyhydramnios Neonatal hypotonia Mental deterioration Feeding difficulties in infancy Stroke Fibroma Muscular dystrophy Talipes Lower limb muscle weakness Abnormal EKG Myocardial fibrosis Heart block Decreased antibody level in blood Acanthosis nigricans Pointed chin Polyuria Increased body weight Dental crowding Epidermal acanthosis Type II diabetes mellitus Pigmentary retinopathy Overgrowth Cyanosis Growth hormone deficiency Ventriculomegaly Frontal bossing Hypoplasia of the corpus callosum Depressivity Hepatosplenomegaly Intellectual disability, moderate Broad forehead Dolichocephaly Infertility Nevus Astigmatism Cirrhosis Hypodontia Ascites Reduced tendon reflexes Cachexia Weak voice Obsessive-compulsive trait Facial diplegia Nonimmune hydrops fetalis Atrial flutter Testicular atrophy First degree atrioventricular block Prominent superficial veins Triangular face Frontal balding Excessive daytime sleepiness Microglossia Narcolepsy Scaphocephaly Percussion myotonia Premature ovarian insufficiency Pericarditis Ring fibers Neoplasm Feeding difficulties Slender long bone Pulmonary fibrosis Depressed nasal bridge High pitched voice Dysarthria Wide nasal bridge Nephroblastoma Macrocephaly Abnormality of the ear Cryptorchidism Polydipsia Psoriasiform dermatitis Recurrent infections Areflexia Elevated hepatic transaminase Distal muscle weakness Ichthyosis Hepatic steatosis Waddling gait Hypertriglyceridemia Fasciculations Exercise intolerance Hyperlipidemia Gowers sign Delayed thelarche Neck muscle weakness Progressive proximal muscle weakness Increased muscle lipid content Microalbuminuria Neonatal insulin-dependent diabetes mellitus Reduced pancreatic beta cells Steatorrhea Abnormality of the pancreatic islet cells Myopia Intellectual disability, mild Abnormality of metabolism/homeostasis Fatigue Dorsocervical fat pad Clinodactyly of the 5th finger Resting tremor Optic atrophy Tremor Dystonia Ophthalmoplegia Dyskinesia Chorea Specific learning disability Abnormality of extrapyramidal motor function Involuntary movements Increased variability in muscle fiber diameter Mildly elevated creatine phosphokinase Orofacial dyskinesia Hyperinsulinemic hypoglycemia Abnormal posturing Abnormal basal ganglia MRI signal intensity Progressive extrapyramidal movement disorder Progressive extrapyramidal muscular rigidity Central core regions in muscle fibers Scoliosis Short neck Joint laxity Wide nose Amenorrhea Primary amenorrhea Absence seizures Delayed skeletal maturation Prominent forehead Failure to thrive in infancy Impulsivity Hypermetropia Synophrys Thin vermilion border Joint hypermobility Thick eyebrow Thick vermilion border Tapered finger Round face Broad-based gait Delayed gross motor development Polycystic ovaries Cavum septum pellucidum Blepharophimosis Long toe Horizontal eyebrow Flexion contracture Vomiting Pneumonia Muscular hypotonia of the trunk Confusion Hypsarrhythmia Progressive neurologic deterioration Aspiration Type I diabetes mellitus Short philtrum Aggressive behavior Osteopenia Severe postnatal growth retardation Postnatal growth retardation Single transverse palmar crease Delayed eruption of teeth Bilateral sensorineural hearing impairment Low posterior hairline Decreased body weight Low anterior hairline Congenital sensorineural hearing impairment Truncal obesity Severe intrauterine growth retardation Abnormality of the mouth Short attention span Anxiety Concave nasal ridge Neonatal hyperbilirubinemia Prelingual sensorineural hearing impairment Small placenta Congenital bilateral ptosis Nystagmus Epicanthus Syndactyly Upslanted palpebral fissure High forehead Macrotia Deeply set eye Pericardial constriction


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Generalized tonic-clonic seizures, related diseases and genetic alterations