Myopathy, and Acute leukemia

Diseases related with Myopathy and Acute leukemia

In the following list you will find some of the most common rare diseases related to Myopathy and Acute leukemia that can help you solving undiagnosed cases.

Top matches:

Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2J Is also known as lgmd2j|muscular dystrophy, limb-girdle, type 2j

Related symptoms:

  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness
  • Distal muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2J

Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.

TIBIAL MUSCULAR DYSTROPHY Is also known as distal myopathy, udd type|tardive tibial muscular dystrophy|finnish tibial muscular dystrophy|tmd|udd myopathy|distal titinopathy

Related symptoms:

  • Gait disturbance
  • Cardiomyopathy
  • Myopathy
  • Respiratory failure
  • Difficulty walking


SOURCES: ORPHANET OMIM MENDELIAN

More info about TIBIAL MUSCULAR DYSTROPHY

Low match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Other less relevant matches:

Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 2; NEM2

Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Distal myopathy, Welander type (WDM) is a distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.

DISTAL MYOPATHY, WELANDER TYPE Is also known as wdm

Related symptoms:

  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about DISTAL MYOPATHY, WELANDER TYPE

MN antigens reside on GYPA, one of the most abundant red-cell glycoproteins. The M and N antigens are 2 autosomal codominant antigens encoded by the first 5 amino acids of GYPA and include 3 O-linked glycans as part of the epitope. M and N differ at amino acids 1 and 5, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. M is the ancestral GYPA allele and is common in all human populations and Old World apes. GYPA, glycophorin B (GYPB ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Antigens of the Ss blood group (OMIM ) reside on GYPB, and recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs or MNS blood group system. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, MN; MN Is also known as mn blood group

Related symptoms:

  • Neoplasm
  • Anemia
  • Leukemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, MN; MN

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

Top 5 symptoms//phenotypes associated to Myopathy and Acute leukemia

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Leukemia Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Myopathy and Acute leukemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Muscular hypotonia Scoliosis Neoplasm Failure to thrive Seizures Motor delay Downslanted palpebral fissures Edema Delayed speech and language development Macrocephaly Cognitive impairment Pain Muscle weakness Micrognathia Frontal bossing Hypertelorism Pectus excavatum Hypoglycemia Dolichocephaly Lymphoma High palate Cardiomyopathy Abnormal facial shape Muscular dystrophy Transient myeloproliferative syndrome Feeding difficulties Clumsiness EMG: myopathic abnormalities Cryptorchidism Long philtrum Proximal muscle weakness

Rare Symptoms - Less than 30% cases

Cystic hygroma Delayed skeletal maturation Posteriorly rotated ears Cafe-au-lait spot Hamartoma Multiple cafe-au-lait spots Polyhydramnios Triangular face Cutis marmorata Multiple lipomas Failure to thrive in infancy Hyporeflexia Thrombocytopenia Hepatosplenomegaly Intracranial hemorrhage Poor suck Abnormality of the nervous system Low-set, posteriorly rotated ears Obesity Splenomegaly Hashimoto thyroiditis Aortic valve stenosis Intestinal polyposis Microcephaly Anemia Hamartomatous polyposis Macrotia Hydrops fetalis Large fontanelles Decreased fetal movement Short nose Arteriovenous malformation Falls Nystagmus Apnea Hydrocele testis Meningioma Fever Neonatal hypotonia Optic atrophy Talipes equinovarus Decreased muscle mass Vomiting Lipoma Nevus Bicuspid aortic valve Telangiectasia Hypermetropia Kyphosis Intellectual disability, mild Diarrhea Atrial septal defect Skeletal muscle atrophy Myopia Cataract Ataxia Growth delay Strabismus Subcutaneous nodule Autism Hypertension Epicanthus Anteverted nares Mildly elevated creatine phosphokinase Prominent forehead Foot dorsiflexor weakness Respiratory failure Gait disturbance Limb-girdle muscular dystrophy Distal muscle weakness Elevated serum creatine phosphokinase Dilatation Depressed nasal bridge Narrow mouth Esotropia Broad thumb Lymphedema Polymicrogyria Joint hypermobility Hip dysplasia Micropenis Webbed neck Syndactyly Reduced prothrombin activity Reduced factor X activity Abnormality of the subarachnoid space Intrauterine growth retardation Ventriculomegaly Intellectual disability, severe Congestive heart failure Broad forehead Pectus carinatum Abnormality of the dentition Sparse hair Behavioral abnormality Deep philtrum Postnatal growth retardation Reduced factor XII activity Clinodactyly Recurrent respiratory infections Osteoporosis Upslanted palpebral fissure Hypogonadism Mitral regurgitation Torticollis Feeding difficulties in infancy Diabetes mellitus Vasculitis Hyperpigmentation of the skin Bilateral single transverse palmar creases Highly arched eyebrow Ascites Juvenile myelomonocytic leukemia Hypoplasia of olfactory tract Cubitus valgus Cholelithiasis Abnormality of the thorax Proximal placement of thumb Astigmatism Abnormality of the foot Pleural effusion Neurodevelopmental delay Wide intermamillary distance Pulmonic stenosis Bruising susceptibility Thick vermilion border Bilateral ptosis Abnormal bleeding Cyanosis Epistaxis Abnormal eyebrow morphology Reduced factor IX activity Facial hypotonia Short attention span B-cell lymphoma Abnormality of the spleen Low posterior hairline Hypochromic microcytic anemia Chylothorax Prominent fingertip pads Broad toe Monocytosis Pulmonary lymphangiectasia Overfolded helix Abnormality of the mediastinum Fine hair Arteritis Narrow forehead Hyperactivity Chromosome breakage Disseminated intravascular coagulation Erysipelas Frontal upsweep of hair Clitoral hypoplasia Anteverted ears Poor fine motor coordination Abdominal obesity Cor pulmonale Generalized hypopigmentation Hypothermia Ocular albinism Hypoplasia of the fovea Temperature instability Acrocyanosis Oligomenorrhea Overweight Central hypotonia Abnormality of lipid metabolism Iris hypopigmentation Hypoventilation Hypopigmentation of hair Pulmonary embolism Striae distensae Impaired pain sensation Triangular mouth Central adrenal insufficiency Narrow nasal bridge Aortic aneurysm Abnormal large intestine morphology Uterine neoplasm Abdominal wall muscle weakness Subcutaneous hemorrhage Neoplasm of the breast Visceral angiomatosis Thyroid carcinoma Angina pectoris Abnormality of the optic nerve Capillary hemangioma Irregular hyperpigmentation Cachexia Hypoplastic labia minora Delayed gross motor development Narrow palate Tall stature Wide nose Joint hyperflexibility Neurological speech impairment Acromicria Poor gross motor coordination Almond-shaped palpebral fissure Hypopnea Narrow palm Psychotic episodes Myeloid leukemia Polyphagia Weight loss Short palm Febrile seizures Growth hormone deficiency Gastrointestinal hemorrhage Full cheeks Sepsis Hypopigmentation of the skin Sleep disturbance Tapered finger Short foot Small hand Downturned corners of mouth Arachnodactyly Amenorrhea Infertility Genu valgum Delayed puberty Carious teeth Pruritus Stroke Attention deficit hyperactivity disorder Respiratory tract infection Abnormality of the pinna Photophobia Thin upper lip vermilion Osteopenia Specific learning disability Abnormality of the cardiovascular system External genital hypoplasia Nasal speech Truncal obesity Adrenal insufficiency Skeletal muscle hypertrophy Albinism Glucose intolerance Inflammation of the large intestine Large hands Emotional lability Radial deviation of finger Hyperinsulinemia Precocious puberty Infantile muscular hypotonia Oligohydramnios Scrotal hypoplasia Sleep apnea Narrow palpebral fissure Spontaneous abortion Hypogonadotrophic hypogonadism Increased body weight Bradycardia Insulin resistance Primary amenorrhea Cutaneous photosensitivity Psychosis Type II diabetes mellitus Joint laxity Cerebral cortical atrophy High forehead Renal cell carcinoma Astrocytoma Abnormality of the uterus Furrowed tongue Megalencephaly Skin tags Prolactin excess Papilledema Abnormality of the vasculature Scaphocephaly Hodgkin lymphoma Bone cyst Thyroiditis Ovarian neoplasm Hyperthyroidism Acute myeloid leukemia Cellulitis Abnormality of the thyroid gland Macule Melanocytic nevus Hand polydactyly Ovarian cyst Cellular immunodeficiency Incoordination Abnormality of the penis Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Subcutaneous lipoma Long penis Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Papilloma Enlarged polycystic ovaries Cavernous hemangioma Dysdiadochokinesis Palmoplantar hyperkeratosis Mucosal telangiectasiae Quadriceps muscle weakness Hypothyroidism Recurrent infections Headache Immunodeficiency Hydrocephalus Tremor Brachydactyly Hearing impairment Weakness of long finger extensor muscles Ankle weakness Intellectual disability, moderate Distal upper limb muscle weakness Increased muscle lipid content Peroneal muscle atrophy Proximal muscle weakness in lower limbs Centrally nucleated skeletal muscle fibers Rimmed vacuoles Increased variability in muscle fiber diameter Steppage gait Difficulty walking Carcinoma Abnormality of the kidney Goiter Gynecomastia Breast carcinoma Melanoma Hypopigmented skin patches Increased intracranial pressure Hemangioma Drooling Cranial nerve paralysis Neoplasm of the skin Lymphopenia Exotropia Papule Chronic diarrhea Intention tremor Overgrowth Decreased antibody level in blood Macroglossia Abnormal cerebellum morphology Hypoplasia of the maxilla Palmoplantar keratoderma Nausea and vomiting Pseudopapilledema Acrokeratosis Gastroesophageal reflux Elevated hepatic transaminase Aciduria Progressive cerebellar ataxia Metabolic acidosis Retinal dystrophy Lactic acidosis Lymphadenopathy Malabsorption Skin rash Abnormality of the liver Arthralgia Blue sclerae Kyphoscoliosis Acidosis Abdominal pain Cerebral atrophy Cerebellar atrophy Hepatomegaly Late-onset distal muscle weakness Mitochondrial depletion Severe hydrops fetalis Underdeveloped nasal alae Leukocytosis Multiple pterygia Chronic leukemia Inguinal hernia Abnormality of cardiovascular system morphology Respiratory distress Short neck Ptosis Normocytic hypoplastic anemia Fluctuating splenomegaly Fluctuating hepatomegaly Morbilliform rash Therapeutic abortion Petechiae Glutathione synthetase deficiency Hypoplastic anemia Normocytic anemia Extramedullary hematopoiesis Agenesis of cerebellar vermis Cholestatic liver disease Organic aciduria Nuclear cataract Severe failure to thrive Calf muscle pseudohypertrophy Hand clenching Transitional cell carcinoma of the bladder Lobular carcinoma in situ Abnormality of the eye Facial palsy Areflexia Hypospadias Respiratory insufficiency Dysphagia Dysarthria Flexion contracture Cleft palate Multiple trichilemmomata Arthrogryposis multiplex congenita Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Hyperlordosis Limb muscle weakness Neck flexor weakness Multiple joint contractures Abnormality of the rib cage Slender build Type 1 muscle fiber predominance Nemaline bodies Fetal akinesia sequence EMG: neuropathic changes Spinal rigidity Bulbar palsy Pericardial effusion Myopathic facies Talipes Rocker bottom foot Akinesia Congenital contracture Pterygium Adducted thumb Respiratory insufficiency due to muscle weakness Frequent falls Waddling gait Generalized muscle weakness Inability to walk Neoplasm of the adrenal cortex


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