Muscular hypotonia, and Ichthyosis

Diseases related with Muscular hypotonia and Ichthyosis

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

Top matches:

Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).

HYPERPROLINEMIA TYPE 1 Is also known as hpi|proline oxidase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPROLINEMIA TYPE 1

Low match MEDNIK SYNDROME

MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).

MEDNIK SYNDROME Is also known as intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome|ekv3|erythrokeratodermia variabilis, kamouraska type|erythrokeratodermia variabilis 3

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MEDNIK SYNDROME

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

Other less relevant matches:

ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).

CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME Is also known as congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2

Low match MPDU1-CDG

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.

MPDU1-CDG Is also known as congenital disorder of glycosylation type 1f|cdg syndrome type if|cdg-if|cdgif|cdg1f|carbohydrate deficient glycoprotein syndrome type if|congenital disorder of glycosylation type if|cdg if

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MPDU1-CDG

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

Sjögren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.

SJÖGREN-LARSSON SYNDROME Is also known as fatty acid alcohol oxidoreductase deficiency

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SJÖGREN-LARSSON SYNDROME

Emery-Dreifuss muscular dystrophy is a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. Flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation distinguish the Emery-Dreifuss form (EDMD1) from the Becker form (OMIM ). Genetic Heterogeneity of Emery-Dreifuss Muscular DystrophyAutosomal dominant Emery-Dreifuss muscular dystrophy-2 (EDMD2 ), is caused by mutation in the lamin A/C gene (LMNA ); autosomal recessive EDMD3 (OMIM ) is also caused by mutation in the LMNA gene. Additional autosomal dominant forms include EDMD4 (OMIM ), caused by mutation in the SYNE1 gene (OMIM ), EDMD5 (OMIM ), caused by mutation in the SYNE2 gene (OMIM ), and EDMD7 (OMIM ), caused by mutation in the TMEM43 gene (OMIM ). A second X-linked form (EDMD6; see {300696}) is caused by mutation in the FHL1 gene (OMIM ).

EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1 Is also known as emd1|scapuloperoneal syndrome, x-linked, formerly|humeroperoneal neuromuscular disease, formerly|muscular dystrophy, tardive, dreifuss-emery type, with contractures

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1

Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.

ALOPECIA-INTELLECTUAL DISABILITY SYNDROME Is also known as perniola-krajewska-carnevale syndrome|amr syndrome|apmr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALOPECIA-INTELLECTUAL DISABILITY SYNDROME

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Ichthyosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Muscular hypotonia and Ichthyosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Flexion contracture Hearing impairment Hyperkeratosis Dry skin Photophobia Scoliosis Gowers sign Short stature Proximal muscle weakness Elevated serum creatine phosphokinase Myopathy Cardiomyopathy Skeletal muscle atrophy Muscle weakness Erythema Waddling gait

Rare Symptoms - Less than 30% cases

Obesity Scaling skin Joint stiffness Intellectual disability, mild Muscular dystrophy Kyphosis Dilated cardiomyopathy Falls Elevated hepatic transaminase Progressive proximal muscle weakness Delayed speech and language development Erythroderma Nephropathy Failure to thrive Cataract Hyperactivity Hypertriglyceridemia EEG abnormality Myopia Hypertonia Sensorineural hearing impairment Inflammatory abnormality of the eye Abnormality of retinal pigmentation Arrhythmia Pectus excavatum Gait disturbance Abnormality of dental enamel Corneal erosion Macular degeneration Urticaria Spastic diplegia Ptosis Generalized hyperpigmentation Neurological speech impairment Skeletal dysplasia Abnormal pyramidal sign Fasciculations Areflexia Diabetes mellitus Abnormality of skeletal morphology Difficulty walking Myalgia Distal muscle weakness Hepatic steatosis Progressive muscle weakness Insulin resistance Exercise intolerance Retinopathy Hyperlipidemia Easy fatigability Psoriasiform dermatitis Difficulty running Neck muscle weakness Increased muscle lipid content Abnormal nasal morphology Spasticity Dysarthria Hypertrophic cardiomyopathy Pes cavus Intellectual disability, severe Hyperlordosis Increased LDL cholesterol concentration Sparse scalp hair Macrotia Heart block Vocal cord paralysis Abnormality of the neck Achilles tendon contracture Proximal muscle weakness in lower limbs Supraventricular arrhythmia Atrial arrhythmia Hyperhidrosis Split hand Proximal lower limb amyotrophy Alopecia Proximal muscle weakness in upper limbs Ventricular escape rhythm Proximal upper limb amyotrophy Delayed skeletal maturation Type 1 muscle fiber atrophy Decreased cervical spine flexion due to contractures of posterior cervical muscles Absent muscle fiber emerin Sprengel anomaly Hypergonadotropic hypogonadism Paralysis EMG: myopathic abnormalities Unsteady gait Sudden cardiac death Brachydactyly Alopecia universalis Elbow flexion contracture Scapular winging Respiratory insufficiency due to muscle weakness Reduced tendon reflexes Sparse body hair Atrioventricular block Rimmed vacuoles Back pain Recurrent infections Lipodystrophy Limb-girdle muscular dystrophy Myotonia Toe walking Aplasia/Hypoplasia of the eyebrow Spinal rigidity Intellectual disability, progressive Lumbar hyperlordosis Ataxia Congestive heart failure Hyporeflexia Hepatic fibrosis Abnormal intestine morphology Congenital sensorineural hearing impairment Intrahepatic cholestasis Hypocupremia Decreased serum ceruloplasmin Motor delay Atrial septal defect Neonatal hypotonia Cirrhosis Facial palsy Attention deficit hyperactivity disorder Poor speech Mitral valve prolapse Frequent falls Infantile muscular hypotonia Congenital muscular dystrophy Mildly elevated creatine phosphokinase Difficulty standing Cholestasis High forehead Hernia Schizophrenia Neoplasm Behavioral abnormality Proteinuria Aggressive behavior Sleep disturbance Status epilepticus Hemiparesis Stereotypy Severe muscular hypotonia Nephritis Upslanted palpebral fissure Nephroblastoma Bruxism Motor deterioration Hyperglycinuria Hydroxyprolinuria Prolinuria Hyperprolinemia Peripheral neuropathy Diarrhea Mitochondrial depletion Inguinal hernia Fatigue Optic atrophy Nephrogenic diabetes insipidus Giant cell hepatitis Talipes calcaneovalgus Nystagmus Strabismus Cognitive impairment Feeding difficulties Visual impairment Cerebral atrophy Conjugated hyperbilirubinemia Absent speech Severe short stature Apnea Abnormality of the eye Severe global developmental delay Abnormality of vision Abnormality of the coagulation cascade Pain Hepatomegaly Cholestatic liver disease Right ventricular hypertrophy Pallor Abnormality of visual evoked potentials Tetraplegia Generalized myoclonic seizures Asthma Brain atrophy Delayed myelination Spastic tetraplegia High myopia Intellectual disability, profound Aspiration Drusen Renal tubular acidosis Low-set ears Ventricular septal defect Jaundice Arthrogryposis multiplex congenita Metabolic acidosis Hip dysplasia Sloping forehead Nephrocalcinosis Lissencephaly Short corpus callosum


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