Macrocephaly, and Spinal muscular atrophy

Diseases related with Macrocephaly and Spinal muscular atrophy

In the following list you will find some of the most common rare diseases related to Macrocephaly and Spinal muscular atrophy that can help you solving undiagnosed cases.

Top matches:

Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.

PONTOCEREBELLAR HYPOPLASIA TYPE 1 Is also known as pch1|norman disease|pontocerebellar hypoplasia with infantile spinal muscular atrophy|pontocerebellar hypoplasia with anterior horn cell disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 1

Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement (summary by Wan et al., 2012). PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival (summary by Halevy et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B

Other less relevant matches:

Pelizaeus-Merzbacher disease is an X-linked recessive hypomyelinative leukodystrophy (HLD1) in which myelin is not formed properly in the central nervous system. PMD is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay (Inoue, 2005). Genetic Heterogeneity of Hypomyelinating LeukodystrophyOther forms of hypomyelinating leukodystrophy include HLD2 (OMIM ), caused by mutation in the GJC2/GJA12 gene (OMIM ) on chromosome 1q41; HLD3 (OMIM ), caused by mutation in the AIMP1 gene (OMIM ) on chromosome 4q24; HLD4 (OMIM ), caused by mutation in the HSPD1 gene (OMIM ) on chromosome 2q33.1; and HLD5 (OMIM ), caused by mutation in the FAM126A gene (OMIM ) on chromosome 7p15; HLD6 (OMIM ), caused by mutation in the TUBB4A gene (OMIM ) on chromosome 19p13; HLD7 (OMIM ), caused by mutation in the POLR3A gene (OMIM ) on chromosome 10q22; HLD8 (OMIM ), caused by mutation in the POLR3B gene (OMIM ) on chromosome 12q23; HLD9 (OMIM ), caused by mutation in the RARS gene (OMIM ) on chromosome 5; HLD10 (OMIM ), caused by mutation in the PYCR2 gene (OMIM ) on chromosome 1q42; HLD11 (OMIM ), caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21; HLD12 (OMIM ), caused by mutation in the VPS11 gene (OMIM ) on chromosome 11q23; HLD13 (OMIM ) caused by mutation in the HIKESHI gene (OMIM ) on chromosome 11q14; HLD14 (OMIM ), caused by mutation in the UFM1 gene (OMIM ) on chromosome 13q13; HLD15 (OMIM ), caused by mutation in the EPRS gene (OMIM ) on chromosome 1q41; HLD16 (OMIM ), caused by mutation in the TMEM106B gene (OMIM ) on chromosome 7p21; and HLD17 (OMIM ), caused by mutation in the AIMP2 gene (OMIM ) on chromosome 7p22.

PELIZAEUS-MERZBACHER DISEASE; PMD Is also known as leukodystrophy, hypomyelinating, 1|hld1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER DISEASE; PMD

Complex IV (cytochrome c oxidase; {EC 1.9.3.1}) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase complex are the actual catalytic subunits that carry out the electron transport function (Saraste, 1983). See {123995} for discussion of some of the nuclear-encoded subunits.Shoubridge (2001) provided a comprehensive review of cytochrome c oxidase deficiency and noted that most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare.

ISOLATED CYTOCHROME C OXIDASE DEFICIENCY Is also known as isolated mitochondrial respiratory chain complex iv deficiency|cox deficiency|isolated cox deficiency|cytochrome c oxidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.

ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY Is also known as ampd1 deficiency|amp deaminase deficiency|myoadenylate deaminase deficiency, myopathy due to|adenosine monophosphate deaminase-1 deficiency, myopathy due to|myoadenylate deaminase deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Skeletal muscle atrophy
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY

Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.

HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY Is also known as mental retardation, autosomal recessive 8, formerly|adk hypermethioninemia|mrt8, formerly|hypermethioninemia encephalopathy due to adk deficiency

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY

Low match FOWLER SYNDROME

The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).

FOWLER SYNDROME Is also known as epv|cerebral proliferative glomeruloid vasculopathy|fowler syndrome|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydranencephaly, fowler type|hydrocephaly/hydranencephaly due to cerebral vasculopathy|encephaloclastic proliferative vasculopa

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FOWLER SYNDROME

Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.

GIANT AXONAL NEUROPATHY Is also known as gan

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GIANT AXONAL NEUROPATHY

Top 5 symptoms//phenotypes associated to Macrocephaly and Spinal muscular atrophy

Symptoms // Phenotype % cases
Skeletal muscle atrophy Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Macrocephaly and Spinal muscular atrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Ataxia Flexion contracture Hyperreflexia Dysarthria Scoliosis Short stature Failure to thrive Respiratory insufficiency Peripheral neuropathy Visual impairment Motor delay Areflexia Progressive muscle weakness Difficulty walking Brisk reflexes Cerebellar atrophy Tremor Fasciculations Abnormality of the foot Spastic paraplegia Distal amyotrophy Muscular hypotonia Optic atrophy Cerebellar hypoplasia Abnormal cerebellum morphology Strabismus Paraplegia Limb muscle weakness Growth delay

Rare Symptoms - Less than 30% cases

Axonal loss Weak cry Delayed speech and language development Hearing impairment Hypoplasia of the brainstem Gait disturbance Dystonia Poor head control Kyphosis Babinski sign CNS hypomyelination Recurrent respiratory infections Ventriculomegaly Abnormality of the hair Polyneuropathy Unsteady gait Distal muscle weakness Elevated hepatic transaminase Decreased liver function Increased serum lactate Hepatic steatosis Dilatation Myopathy Anemia Myoclonus Sensorineural hearing impairment Cerebral palsy Choreoathetosis Premature birth Chorea Tetraplegia Abnormality of movement Neurological speech impairment Abnormal pyramidal sign Neonatal hypotonia Oculomotor apraxia Spastic tetraplegia Intention tremor Polyhydramnios Paralysis Abnormal facial shape Cognitive impairment Feeding difficulties Cerebral atrophy Hypoplasia of the pons Abnormal anterior horn cell morphology Degeneration of anterior horn cells Pneumonia Respiratory failure Muscular hypotonia of the trunk Hip dislocation Tongue fasciculations Congenital contracture Apraxia Decreased fetal movement Dysphagia Talipes equinovarus Progressive microcephaly Limb ataxia Sensory neuropathy Poor suck Abnormality of chromosome stability Chronic myelogenous leukemia Conjunctival telangiectasia Abnormality of the pituitary gland Neoplasm of the breast Cellular immunodeficiency Chronic hepatitis Abnormal spermatogenesis Elevated alpha-fetoprotein Chronic lymphatic leukemia Decreased proportion of CD4-positive T cells Progressive spinal muscular atrophy Female hypogonadism Increased sensitivity to ionizing radiation Aplasia/Hypoplasia of the thymus Mucosal telangiectasiae Non-Hodgkin lymphoma Immunoglobulin IgG2 deficiency Decreased/absent ankle reflexes Curly eyelashes Interosseus muscle atrophy IgE deficiency Defective B cell differentiation Pain Abnormal hand morphology Fatigue Hypoplasia of the thymus Chromosome breakage Absent Achilles reflex Breast carcinoma Premature graying of hair Combined immunodeficiency Glucose intolerance Athetosis Polycystic ovaries Slurred speech Pili canaliculi Aplasia/Hypoplasia of the skin Reduced tendon reflexes Recurrent pneumonia Truncal ataxia Abnormality of the Achilles tendon Lymphopenia Abnormal vertebral morphology Sinusitis Resting tremor Multiple cafe-au-lait spots Spinocerebellar tract degeneration Severe combined immunodeficiency Lymphoproliferative disorder Abnormality of the testis B-cell lymphoma Renal neoplasm Recurrent bronchitis Myalgia Recurrent lower respiratory tract infections Acute lymphoblastic leukemia Telangiectasia of the skin Hepatocellular carcinoma Hypopigmentation of hair Hodgkin lymphoma IgA deficiency Prematurely aged appearance Myeloid leukemia Abnormality of the immune system Elevated serum creatine phosphokinase Exercise-induced myalgia Stroke Limb joint contracture Pes cavus Abnormality of the skeletal system Severe hydrocephalus Facial diplegia Multiple pterygia Motor axonal neuropathy Hydranencephaly Curly hair Bulbar signs Woolly hair Areflexia of lower limbs Morphological abnormality of the pyramidal tract Bronchiectasis Fetal akinesia sequence High forehead Decreased number of peripheral myelinated nerve fibers Akinesia Steppage gait Paraparesis Spastic paraparesis Sensorimotor neuropathy Abnormality of the hand Sensory impairment Distal sensory impairment Sensory axonal neuropathy Amyotrophic lateral sclerosis Falls Joint hypermobility Peripheral axonal neuropathy Genu valgum Facial palsy Proximal muscle weakness Pes planus Cystic hygroma Pterygium Muscle cramps Hypertelorism Coarctation of aorta Poor speech Pulmonic stenosis Atrial septal defect Frontal bossing Red hair Elevated creatine kinase after exercise Hyperbilirubinemia Exercise-induced muscle fatigue Increased muscle fatiguability Chronic fatigue Rhabdomyolysis Easy fatigability Infantile muscular hypotonia Cholestasis Secundum atrial septal defect Lissencephaly Agenesis of corpus callosum Microretrognathia Hypsarrhythmia Hyporeflexia of lower limbs Cerebral calcification Dandy-Walker malformation Arthrogryposis multiplex congenita Abnormality of metabolism/homeostasis Portal fibrosis Hydrocephalus Intrauterine growth retardation Low-set ears Cleft palate Micrognathia Narrow foot Hypermethioninemia Cafe-au-lait spot Hyperammonemia Telangiectasia Muscle stiffness Spastic diplegia Stridor Failure to thrive in infancy Cachexia Abnormality of the urinary system Increased body weight Leukodystrophy Progressive spasticity Lower limb spasticity Involuntary movements Clumsiness Broad-based gait Joint stiffness Developmental regression Bowel incontinence Abnormality of visual evoked potentials Dementia Head titubation Hypertension Ptosis Reduction of oligodendroglia Diffuse cerebral sclerosis Congenital laryngeal stridor Sudanophilic leukodystrophy Macrogyria Head tremor Cerebral dysmyelination Progressive spastic quadriplegia Scanning speech Psychomotor deterioration Rotary nystagmus Arteriovenous malformation Cerebral cortical atrophy Hyporeflexia Respiratory distress Olivopontocerebellar hypoplasia Absent speech Hypoplasia of the ventral pons Intercostal muscle weakness Basal ganglia gliosis Neuronal loss in basal ganglia Mitochondrial respiratory chain defects Enlarged cisterna magna Talipes EMG: neuropathic changes Sleep disturbance Dyskinesia Feeding difficulties in infancy Intellectual disability, mild Hypertonia Severe global developmental delay Dysmetria Behavioral abnormality Cerebellar cyst Intellectual disability, severe Retrocerebellar cyst Talipes valgus Motor neuron atrophy Atrophy of the spinal cord Tongue atrophy Abnormal lower motor neuron morphology Retinal dystrophy Gaze-evoked nystagmus Global brain atrophy Adducted thumb Cone/cone-rod dystrophy Brain atrophy Gliosis Hepatomegaly Cardiomyopathy Pancytopenia Microvesicular hepatic steatosis Spastic hemiparesis Increased intramyocellular lipid droplets Proximal renal tubular acidosis Cytochrome C oxidase-negative muscle fibers Renal Fanconi syndrome Hepatic encephalopathy Respiratory arrest Neoplasm Thoracolumbar kyphosis Periventricular leukomalacia Hyperphosphaturia Increased CSF lactate Renal tubular dysfunction Thoracolumbar scoliosis Increased hepatocellular lipid droplets Immunodeficiency Progressive encephalopathy Delayed puberty Type II diabetes mellitus Hepatitis Decreased antibody level in blood Lymphoma Progressive cerebellar ataxia Abnormality of eye movement Leukemia Recurrent infections Abnormality of the liver Respiratory tract infection Anxiety Carcinoma Gait ataxia Diabetes mellitus Mitochondrial myopathy Renal tubular acidosis Vomiting Generalized tonic-clonic seizures Aciduria Generalized muscle weakness Coma Metabolic acidosis Hepatic failure Lactic acidosis Irritability Pulmonary arterial hypertension Apnea Hypertrophic cardiomyopathy Proteinuria Kyphoscoliosis Acidosis Encephalopathy Pigmentary retinopathy Status epilepticus Glycosuria Hypercalciuria Exertional dyspnea Polyuria Myotonia Apathy Polydipsia Hemiplegia Tachypnea Hemiparesis Leukoencephalopathy Respiratory insufficiency due to muscle weakness Severe muscular hypotonia Exercise intolerance Aminoaciduria Congenital hip dislocation Progressive neurologic deterioration Diffuse axonal swelling


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