Obesity, and Difficulty walking

Diseases related with Obesity and Difficulty walking

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


Top matches:

High match OBESITY DUE TO CONGENITAL LEPTIN DEFICIENCY


Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.

OBESITY DUE TO CONGENITAL LEPTIN DEFICIENCY Is also known as obesity, morbid, nonsyndromic 1

Related symptoms:

  • Recurrent infections
  • Obesity
  • Pneumonia
  • Hypogonadism
  • Micropenis


SOURCES: ORPHANET OMIM MENDELIAN

More info about OBESITY DUE TO CONGENITAL LEPTIN DEFICIENCY

High match NEUTRAL LIPID STORAGE MYOPATHY


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

High match DORFMAN-CHANARIN DISEASE


DORFMAN-CHANARIN DISEASE Is also known as neutral lipid storage disease with ichthyosis|nlsdi

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about DORFMAN-CHANARIN DISEASE

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Other less relevant matches:

High match SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME


Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.

SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME Is also known as spastic paraplegia-psychomotor retardation-seizures syndrome|spprs syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME

High match AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY


EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

High match MEHMO SYNDROME


MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

High match CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B; CMT2A2B


Autosomal recessive axonal CMT2A2B is a neurologic disorder characterized by onset of peripheral neuropathy in the first years of life. Patients have difficulty walking due to distal muscle weakness; upper limbs may also be affected. Sensory impairment is more variable. Patients often have optic atrophy (summary by Polke et al., 2011).

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B; CMT2A2B

High match SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1


Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

High match SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA


Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA Is also known as ap4 deficiency syndrome|cpsq4, formerly|cerebral palsy, spastic quadriplegic, 4, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA

High match AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY


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

Top 5 symptoms//phenotypes associated to Obesity and Difficulty walking

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Obesity and Difficulty walking. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Talipes equinovarus Skeletal muscle atrophy Intellectual disability Progressive muscle weakness Waddling gait Myopathy Scoliosis Global developmental delay Areflexia Hearing impairment Pain Microcephaly Elevated serum creatine phosphokinase Kyphosis Hypoplasia of the corpus callosum Fasciculations Spasticity Strabismus Myalgia Seizures Facial palsy Calf muscle hypertrophy Falls Pes cavus Respiratory insufficiency due to muscle weakness Hypertriglyceridemia Flexion contracture Overweight

Rare Symptoms - Less than 30% cases


Limb-girdle muscular dystrophy Dysphagia Myopia Neonatal hypotonia Tetraparesis EMG: myopathic abnormalities Spinal muscular atrophy Dysarthria Delayed speech and language development Muscle fibrillation Muscular dystrophy Ataxia Limb muscle weakness Dystonia Wide nasal bridge Gait disturbance Progressive spastic paraplegia Urinary incontinence Talipes Downturned corners of mouth Inability to walk Distal lower limb amyotrophy Lower limb spasticity Hyporeflexia Mildly elevated creatine phosphokinase Peripheral axonal neuropathy Delayed gross motor development Ptosis Spastic paraplegia Proximal muscle weakness in lower limbs Muscular hypotonia of the trunk High palate Peripheral neuropathy Paraplegia Recurrent infections Frequent falls Absent speech Open mouth Nystagmus Abnormal facial shape Progressive proximal muscle weakness Hyperreflexia Ventriculomegaly Intellectual disability, severe Hypertonia Increased body weight Sensorineural hearing impairment Babinski sign Gynecomastia Insulin resistance Poor speech Infertility Micropenis Hypogonadism Pneumonia Proximal spinal muscular atrophy Cryptorchidism Ichthyosis Congestive heart failure Distal muscle weakness Drooling Hyperlipidemia Diabetes mellitus Proximal muscle weakness in upper limbs Cardiomyopathy Easy fatigability Tapered finger Tremor Lactic acidosis Wrist drop Thick vermilion border Spinal deformities Long face Depressed nasal tip Visual loss Facial asymmetry Large earlobe Birth length less than 3rd percentile Delayed puberty Male hypogonadism Sensory neuropathy Neurodegeneration Type II diabetes mellitus Muscle cramps Abnormal cerebellum morphology Broad nasal tip Agitation Decreased nerve conduction velocity Distal sensory impairment Widely spaced teeth Spastic tetraparesis Progressive microcephaly Optic atrophy Kyphoscoliosis Hypoplasia of penis Abnormality of the cerebral white matter Sloping forehead Growth hormone deficiency Sensory impairment External genital hypoplasia Optic disc pallor Sensorimotor neuropathy Foot dorsiflexor weakness Failure to thrive Tall chin Round face Poor head control Pancreatitis Full cheeks Abdominal obesity Laryngospasm Intention tremor Shyness Decreased fetal movement Generalized muscle weakness Ophthalmoplegia Polyhydramnios Motor delay Prominent antihelix Everted upper lip vermilion External ophthalmoplegia Acetabular dysplasia Spastic dysarthria Generalized joint laxity Facial hypotonia Genu recurvatum Abnormality of the periventricular white matter Long nose Spontaneous abortion Pyloric stenosis Pointed chin Areflexia of lower limbs Abnormality of the foot musculature Macrocephaly at birth Neonatal asphyxia Cavernous hemangioma Restrictive deficit on pulmonary function testing Exercise-induced myalgia Type 1 muscle fiber predominance Ophthalmoparesis Malignant hyperthermia Drowsiness Centrally nucleated skeletal muscle fibers Thin ribs Generalized amyotrophy Large for gestational age Skeletal muscle hypertrophy Decreased muscle mass Narrow face Aspiration Hand tremor Hyperlipoproteinemia Testicular atrophy Kinetic tremor Oligospermia Bulbar signs Aspiration pneumonia Abnormality of the mouth Tongue atrophy Abnormality of lipid metabolism Axonal loss Bulbar palsy Decreased fertility Impotence Amyotrophic lateral sclerosis Dysphonia Decreased LDL cholesterol concentration Limb tremor Stereotypy Wide mouth Amblyopia Spastic tetraplegia Narrow forehead Tetraplegia Bulbous nose Short philtrum Pes planus Motor neuron atrophy Coarse facial features Cerebral cortical atrophy Cerebellar atrophy Downslanted palpebral fissures Small for gestational age Erectile abnormalities Exercise-induced muscle cramps Severe global developmental delay Achilles tendon contracture Attention deficit hyperactivity disorder Generalized myoclonic seizures Neck muscle weakness Increased muscle lipid content Hypertelorism Macrocephaly Abnormality of the skeletal system Cerebral atrophy Deeply set eye Developmental regression Hip dislocation Generalized tonic-clonic seizures Abnormality of the foot Unsteady gait Retinal dystrophy Delayed myelination Gowers sign Lumbar hyperlordosis Broad-based gait Cerebral white matter atrophy Puberty and gonadal disorders Structural foot deformity Exophoria Delayed peripheral myelination Abnormality of the musculature of the lower limbs Absent pubertal growth spurt Focal myoclonic seizures Feeding difficulties Respiratory insufficiency Midface retrusion Pectus excavatum Difficulty running Psoriasiform dermatitis Dyspnea Insulin-resistant diabetes mellitus Hypothyroidism Asthma Hypotension Decreased testicular size Amenorrhea Primary amenorrhea Hypergonadotropic hypogonadism Recurrent pneumonia Accelerated skeletal maturation Recurrent upper respiratory tract infections Hyperinsulinemia Polyphagia Orthostatic hypotension Pituitary hypothyroidism Exercise intolerance Absence of secondary sex characteristics Decreased serum estradiol Recurrent ear infections Decreased testosterone in males Decreased proportion of CD4-positive T cells Orthostatic hypotension due to autonomic dysfunction Hypoplasia of the ovary Decreased serum leptin Decreased T cell activation Abnormal eating behavior Hepatomegaly Fatigue Elevated hepatic transaminase Hepatic steatosis Arrhythmia Rigidity Cleft lip Decreased cervical spine flexion due to contractures of posterior cervical muscles Abnormal atrioventricular conduction Increased LDL cholesterol concentration Atrial arrhythmia Shoulder girdle muscle atrophy Peroneal muscle atrophy Proximal lower limb amyotrophy Limb-girdle muscle atrophy Left anterior fascicular block Peroneal muscle weakness Ventricular escape rhythm Scapuloperoneal amyotrophy Proximal upper limb amyotrophy Type 1 muscle fiber atrophy Restricted neck movement due to contractures Distal lower limb muscle weakness Absent muscle fiber emerin Growth delay Micrognathia Cleft palate Long philtrum Hypospadias Hyperactivity Gait ataxia Autism Acidosis Macrotia EEG abnormality Hypoglycemia Aggressive behavior Supraventricular arrhythmia Shoulder girdle muscle weakness Hypertrophic cardiomyopathy Reduced tendon reflexes Hyperlordosis Joint stiffness Dilated cardiomyopathy Lower limb muscle weakness Vertigo Sudden cardiac death Syncope Myocardial infarction Atrial fibrillation Palpitations Bradycardia Elbow flexion contracture Knee flexion contracture Scapular winging Ventricular arrhythmia Limb-girdle muscle weakness Atrioventricular block Back pain Lipodystrophy Congenital muscular dystrophy Myotonia Toe walking Difficulty climbing stairs Spinal rigidity Rimmed vacuoles Ankle contracture Sprengel anomaly Heart block Vocal cord paralysis Proximal amyotrophy Sleepy facial expression



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Anxiety, related diseases and genetic alterations Edema and Single transverse palmar crease, related diseases and genetic alterations High palate and Narrow mouth, related diseases and genetic alterations

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