Muscle weakness, and Attention deficit hyperactivity disorder

Diseases related with Muscle weakness and Attention deficit hyperactivity disorder

In the following list you will find some of the most common rare diseases related to Muscle weakness and Attention deficit hyperactivity disorder that can help you solving undiagnosed cases.


Top matches:

Medium match MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY


Megaconial-type congenital muscular dystrophy is an autosomal recessive disorder characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011).

MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY Is also known as muscular dystrophy, congenital, with mitochondrial structural abnormalities|congenital megaconial myopathy|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|congenital muscular dystrophy with mitochondrial structural abnormaliti

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

Medium match CYCLIC VOMITING SYNDROME; CVS


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CYCLIC VOMITING SYNDROME; CVS

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Other less relevant matches:

Low match SPASTIC PARAPLEGIA TYPE 7


Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia (see this term) characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.

SPASTIC PARAPLEGIA TYPE 7 Is also known as spg7

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Spasticity
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA TYPE 7

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11


PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11

Low match HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY


Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.

HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY Is also known as methylenetetrahydrofolate reductase deficiency|mthfr deficiency|methylene tetrahydrofolate reductase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY

Low match DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD


DLD deficiency is an autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). This is the result of E3 being a common component of all 3 mitochondrial multienzyme complexes. Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. E3 deficiency is often associated with increased urinary excretion of alpha-keto acids, such as pyruvate (summary by Hong et al., 1996). E3 deficiency can also be associated with increased concentrations of branched-chain amino acids, as observed in maple syrup urine disease (MSUD ), and is sometimes referred to as 'MSUD type III,' although patients with E3 deficiency have additional biochemical defects (Chuang and Shih, 2001; Robinson, 2001).

DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD Is also known as maple syrup urine disease, type iii|e3 deficiency|lipoamide dehydrogenase deficiency, lactic acidosis due to|dld deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD

Low match UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY


UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

Low match ADAMS-OLIVER SYNDROME 5; AOS5


Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

Low match BETA-MANNOSIDOSIS


Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.

BETA-MANNOSIDOSIS Is also known as beta-mannosidase deficiency|beta-mannosidosis|lysosomal beta-mannosidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BETA-MANNOSIDOSIS

Top 5 symptoms//phenotypes associated to Muscle weakness and Attention deficit hyperactivity disorder

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hyperactivity Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Muscle weakness and Attention deficit hyperactivity disorder. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Ataxia

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Spasticity Motor delay Encephalopathy Delayed speech and language development Skeletal muscle atrophy Dysphagia Hypoplasia of the corpus callosum Dystonia Behavioral abnormality Cerebral atrophy Dysarthria Peripheral neuropathy Lethargy Cognitive impairment Muscular hypotonia Hearing impairment Hypertonia Epileptic encephalopathy Poor speech Cardiomyopathy Progressive neurologic deterioration Proximal muscle weakness Myopathy

Rare Symptoms - Less than 30% cases


Incoordination Scoliosis Abnormality of mitochondrial metabolism Abdominal pain Generalized muscle weakness Optic atrophy Fatigue Fever Poor suck Pain Strabismus Vomiting Hepatic failure Gait disturbance Abnormality of the nervous system Severe global developmental delay Stroke Failure to thrive Babinski sign Cerebral cortical atrophy Gait ataxia Abnormality of the cerebral white matter Intention tremor Paraparesis Intellectual disability, severe Recurrent respiratory infections Generalized tonic-clonic seizures Lower limb muscle weakness Nystagmus Impulsivity Umbilical hernia Intellectual disability, mild Hyporeflexia Waddling gait Abnormal facial shape Feeding difficulties Absent speech Hernia Autism Tremor Hip dysplasia Chronic hepatic failure Tics Ventriculomegaly Organic aciduria Severe lactic acidosis Prolonged prothrombin time Subcortical cerebral atrophy Vegetative state Methemoglobinemia Recurrent encephalopathy Muscular hypotonia of the trunk Demyelinating peripheral neuropathy Communicating hydrocephalus Neonatal hypoglycemia Abnormality of eye movement Proximal amyotrophy Pendular nystagmus Hypodontia Cyanosis Status epilepticus Choreoathetosis Involuntary movements Multifocal seizures Focal clonic seizures Hypothermia Thenar muscle atrophy Hypertension Tortuosity of conjunctival vessels Blindness Acidosis Hypoplasia of the abdominal wall musculature Right atrial enlargement Hypoglycemia Elevated hepatic transaminase Hypertrophic cardiomyopathy Abnormality of the liver Lactic acidosis Aspartylglucosaminuria Phonic tics Polycythemia Metabolic acidosis Angiokeratoma corporis diffusum Urinary glycosaminoglycan excretion Aciduria Angiokeratoma Decreased liver function Apathy Brisk reflexes Opisthotonus Exertional dyspnea Short stature Brachydactyly Cutis marmorata telangiectatica congenita Neurological speech impairment Progressive proximal muscle weakness Narrow palpebral fissure Abnormality of metabolism/homeostasis Brachycephaly Spastic tetraplegia Right ventricular hypertrophy Hepatosplenomegaly Hepatomegaly Unsteady gait Dystrophic toenail Calcinosis Oligodactyly Prominent superficial veins Esophageal varix Right ventricular failure Aplasia cutis congenita of scalp Cavernous hemangioma Hypersplenism Aggressive behavior Portal vein thrombosis Prominent scalp veins Calcinosis cutis Spastic tetraparesis Recurrent infections Ventricular septal defect Pulmonary arterial hypertension Congestive heart failure Splenomegaly Syndactyly Flexion contracture Inguinal hernia Abnormal cardiac septum morphology Pulmonic stenosis Neurodevelopmental delay Ascites Coarctation of aorta Ventricular hypertrophy Dilatation Small nail Hyperammonemia Ischemic stroke Patent foramen ovale Portal hypertension Stridor Cutis marmorata Laryngomalacia Abnormality of the coagulation cascade Spastic diplegia Aplasia cutis congenita Abnormal heart morphology Talipes Hyperhomocystinemia Nausea Tapered finger Short chin Growth delay Diarrhea Headache Hyperhidrosis Photophobia Pallor Nausea and vomiting Vertigo Migraine Prominent nasal bridge Anorexia Abnormal autonomic nervous system physiology Exercise intolerance Gastrointestinal dysmotility Hyperreflexia Cerebellar atrophy Pes cavus Reduced visual acuity Abnormal pyramidal sign Spastic paraplegia Paraplegia Wide nose Autistic behavior Urinary incontinence Gowers sign Atrial septal defect Elevated serum creatine phosphokinase Neonatal hypotonia Facial palsy Muscular dystrophy Dilated cardiomyopathy Ichthyosis Falls Mitral valve prolapse Frequent falls Infantile muscular hypotonia Congenital muscular dystrophy Anxiety Mildly elevated creatine phosphokinase Difficulty standing Mitochondrial depletion Hypertelorism Wide nasal bridge Anteverted nares Constipation Narrow mouth High forehead Gastroesophageal reflux Thin upper lip vermilion Abnormal cerebellum morphology Sensory impairment Homocystinuria Poor coordination Hypermetropia Anal atresia Bulbous nose Inability to walk Esotropia Dandy-Walker malformation Broad-based gait Stereotypy Limb ataxia Molar tooth sign on MRI Poor eye contact Impaired social interactions Protruding ear Happy demeanor Apnea Limb muscle weakness Paresthesia Coma Hypsarrhythmia Myocardial infarction Hallucinations Coronary artery atherosclerosis Thromboembolism Delusions Coloboma Respiratory tract infection Memory impairment Impaired vibration sensation in the lower limbs Specific learning disability Optic disc pallor Abnormality of extrapyramidal motor function Lower limb spasticity Spastic gait Spastic paraparesis Ragged-red muscle fibers Nasal speech Impaired vibratory sensation Urinary urgency Lower limb hyperreflexia Urinary bladder sphincter dysfunction Difficulty walking Upper limb muscle weakness Supranuclear gaze palsy Degeneration of the lateral corticospinal tracts Lower limb pain Lower limb hypertonia Abnormality of higher mental function Abnormal mitochondrial morphology Frontal cortical atrophy Slowed slurred speech Talipes equinovarus Agenesis of corpus callosum Increased urinary disaccharide excretion



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