Cryptorchidism, and Myopathy

Diseases related with Cryptorchidism and Myopathy

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

Top matches:

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY Is also known as adrenal hyperplasia v|17-alpha-hydroxylase deficiency

Related symptoms:

  • Muscle weakness
  • Cryptorchidism
  • Hypertension
  • Myopathy
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Strabismus
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE HYPOTONIA-PSYCHOMOTOR DEVELOPMENTAL DELAY-STRABISMUS-CARDIAC SEPTAL DEFECT SYNDROME

Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously.The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (OMIM ) with congenital adrenal hypoplasia (OMIM ) and/or Duchenne muscular dystrophy (DMD ), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996).

GLYCEROL KINASE DEFICIENCY; GKD Is also known as gk deficiency|hyperglycerolemia|gk1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCEROL KINASE DEFICIENCY; GKD

Other less relevant matches:

CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME Is also known as congenital muscular dystrophy, davignon-chauveau type

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cryptorchidism
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME

Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY Is also known as myotubular myopathy, autosomal dominant|ad-cnm|myopathy, centronuclear, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY

MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) (Godfrey et al., 2007).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 Is also known as muscular dystrophy, congenital, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2

Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of life.

CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY Is also known as cftdm

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY

Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

ATELOSTEOGENESIS TYPE I Is also known as mecp2 duplication syndrome|aoi|giant cell chondrodysplasia|mental retardation, x-linked, with recurrent respiratory infections|spondylo-humero-femoral dysplasia|atelosteogenesis type 1|mental retardation, x-linked, syndromic, lubs type|ao1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE I

Top 5 symptoms//phenotypes associated to Cryptorchidism and Myopathy

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Generalized muscle weakness

Uncommon Symptoms - Between 30% and 50% cases

Motor delay Respiratory insufficiency due to muscle weakness Flexion contracture Areflexia Facial palsy High palate Feeding difficulties Respiratory insufficiency Muscular dystrophy Ptosis Open mouth Decreased fetal movement Neonatal hypotonia Proximal muscle weakness Long face Centrally nucleated skeletal muscle fibers Low-set ears Growth delay Short stature Mildly elevated creatine phosphokinase Weak cry Calf muscle hypertrophy EMG: myopathic abnormalities Severe muscular hypotonia Joint laxity Respiratory failure Skeletal muscle atrophy Muscular hypotonia of the trunk Dysphagia Recurrent respiratory infections Delayed speech and language development Strabismus Pectus excavatum Tented upper lip vermilion Ophthalmoplegia Microcephaly

Rare Symptoms - Less than 30% cases

Poor head control Kyphoscoliosis Micrognathia Limb muscle weakness Infantile muscular hypotonia Failure to thrive Hyperlordosis Gastroesophageal reflux Congenital contracture Congenital hip dislocation Congenital muscular dystrophy Multiple joint contractures Brachycephaly Hyporeflexia Midface retrusion Intellectual disability, severe Ventriculomegaly Dilated cardiomyopathy Cognitive impairment Downslanted palpebral fissures Ankle contracture Polyhydramnios Restrictive deficit on pulmonary function testing Progressive muscle weakness Skeletal muscle hypertrophy Waddling gait Malignant hyperthermia Seizures Increased variability in muscle fiber diameter Myopathic facies Downturned corners of mouth Diabetes mellitus Micropenis Hypoplasia of the corpus callosum Abnormality of metabolism/homeostasis Hypertelorism Short palpebral fissure Multiple skeletal anomalies Narrow forehead Cardiomyopathy Osteopenia Talipes Abnormality of the foot Gowers sign Hirsutism Lower limb muscle weakness Lumbar hyperlordosis Atrial fibrillation Clumsiness Insulin resistance Narrow face Hypertension Hyperinsulinemia Hyperglycemia Glucose intolerance Bulbar palsy Glycosuria Arthrogryposis multiplex congenita Pathologic fracture Blepharophimosis Type 1 muscle fiber atrophy Elbow flexion contracture Amenorrhea Knee flexion contracture Scapular winging Reduced tendon reflexes Feeding difficulties in infancy Poor suck Hip contracture Reduced vital capacity Flexion contracture of finger Fatigable weakness of bulbar muscles Telecanthus Hearing impairment Cleft palate Epicanthus Fever Hypospadias Abnormality of the skeletal system Kyphosis Headache Conductive hearing impairment Insulin-resistant diabetes mellitus Difficulty running Postprandial hyperglycemia Nemaline bodies Optic nerve hypoplasia Severe global developmental delay Poor speech Neurodegeneration Chorea Intellectual disability, profound Aganglionic megacolon Lower limb spasticity Stereotypy Aspiration Drooling Premature ovarian insufficiency Respiratory tract infection Myotonia Progressive spasticity Poor eye contact Hypoventilation Central hypotonia Facial hypotonia Chronic constipation Bruxism Central hypoventilation Infantile axial hypotonia Autistic behavior Developmental regression Limb joint contracture Malar flattening Abnormal glucose tolerance Spinal deformities Pulmonary hypoplasia Type 1 fibers relatively smaller than type 2 fibers Ataxia Spasticity Depressed nasal bridge Macrocephaly Abnormality of the dentition Short nose Recurrent infections Anxiety Absent speech Depressivity Patent ductus arteriosus Constipation Pneumonia Narrow mouth Autism Hypothyroidism Macrotia Rigidity Ambiguous genitalia Muscular hypotonia Primary amenorrhea Ventricular septal defect Overweight Follicular hyperkeratosis Generalized joint laxity Pes valgus Minicore myopathy Gastrostomy tube feeding in infancy Abnormal elasticity of skin Pain Abnormal cardiac septum morphology Pes cavus Dilation of lateral ventricles Adrenogenital syndrome Difficulty walking Hypokalemic alkalosis Myalgia Female pseudohermaphroditism Congenital adrenal hyperplasia Peripheral axonal neuropathy Falls Urinary incontinence Frequent falls Neck muscle weakness Spinal rigidity Spontaneous abortion Coma Adrenal hypoplasia Episodic vomiting Congenital adrenal hypoplasia Adrenocortical hypoplasia Increased urinary glycerol Hyperglycerolemia Loss of consciousness Adrenal insufficiency Hyperlipidemia Hypertriglyceridemia Metabolic acidosis Abnormal facial shape Lethargy Small for gestational age Hyperkeratosis Hypoglycemia Acidosis Delayed puberty Dry skin Osteoporosis Vomiting Frontal bossing Decreased circulating renin level External ophthalmoplegia Gynecomastia Abnormality of the cerebral white matter Secondary amenorrhea Dilatation Bifid scrotum Abnormal heart morphology Elevated serum creatine phosphokinase Cerebellar hypoplasia Cerebral cortical atrophy Failure to thrive in infancy Retinopathy Hip dislocation Macroglossia Myopia Pigmentary retinopathy Ventricular hypertrophy Cerebellar vermis hypoplasia Left ventricular hypertrophy Abnormality of the periventricular white matter Left ventricular systolic dysfunction Hypokalemia Accelerated skeletal maturation Ketoacidosis Talipes equinovarus Increased circulating cortisol level Male pseudohermaphroditism Delayed gross motor development Alkalosis Easy fatigability Pyloric stenosis Ophthalmoparesis Perineal hypospadias Metabolic alkalosis Large for gestational age Generalized amyotrophy Muscle fibrillation Thin ribs Drowsiness Type 1 muscle fiber predominance Hyperaldosteronism Areflexia of lower limbs Exercise-induced myalgia Adrenal hyperplasia Proximal muscle weakness in lower limbs Cavernous hemangioma Proximal muscle weakness in upper limbs Neonatal asphyxia Macrocephaly at birth Abnormality of the foot musculature Sleepy facial expression Hostility


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Arthrogryposis multiplex congenita, related diseases and genetic alterations Congestive heart failure and Bradycardia, related diseases and genetic alterations Hydrocephalus and Pneumonia, related diseases and genetic alterations Edema and Ichthyosis, related diseases and genetic alterations